Table 1.
SLO3 Variant Information | Subject A-132 |
---|---|
cDNA alteration | c.1237A > T |
Variant allele | Homozygous |
Protein alteration | p. Ile413Phe |
Variant type | Missense variant |
Allele Frequency in Human Populations | |
1KGP | 0.0000122861 |
East Asians in gnomAD | 0.0048076 |
All individuals in gnomAD | 0.00004215 |
Function Prediction | |
SIFT | damaging |
PolyPhen-2 | damaging |
MutationTaster | disease causing |
NCBI reference sequence accession number of SLO3 is NM_001008723.2
Abbreviations: 1KGP 1000 Genomes Project, gnomAD Genome Aggregation Database