. 2020 Jun 8;139(11):1443–1454. doi: 10.1007/s00439-020-02188-6

Table 2.

In silico prediction and population allele frequencies of RPL3L variants reported in this study

Family	Genomic location (hg19)	HGVS cDNA (NM_005061.3)	HGVS protein (NP_005052.1)	Allele frequency in the gnomAD database^a	Prediction scores
Family	Genomic location (hg19)	HGVS cDNA (NM_005061.3)	HGVS protein (NP_005052.1)	Allele frequency in the gnomAD database^a	SIFT^b	PolyPhen-2^c	MutationTaster	CADD
1	Chr16:1,996,654	c.923A > T	p.(Asp308Val)	0	D (0)	PD (0.998)	Disease causing	23.7
1	Chr16:1,995,856	c.1027C > T	p.(Arg343Trp)	1 in 251,232	D (0)	PD (0.997)	Disease causing	23.6
2	Chr16:1,997,317	c.566C > T	p.(Thr189Met)	6 in 248642^d	D (0)	PD (0.912)	Disease causing	24.0
2	Chr16:1,996,655	c.922G > A	p.(Asp308Asn)	0	D (0)	PD (0.993)	Disease causing	24.1
3	Chr16:2,000,865	c.481C > T	p.(Arg161Trp)	12 in 282644^d	D (0)	PoD (0.905)	Disease causing	24.9
3	Chr16:2,004,073	c.80G > A	p.(Gly27Asp)	2 in 229842^d	D (0)	PD (0.997)	Disease causing	24.4

^aAccessed in April 2020, gnomAD v2.1.1

^bScore 1–0, D deleterious

^cHumVar prediction, Score 0–1, PD probably damaging, PoD possibly damaging

^dOnly in heterozygous state