TABLE 2.
SNX14 variants observed in this family.
| cDNA change | Protein change | Genomic position on chr6 (bp) | Variants type | SIFT a | PolyPhen2 a | Mutation Taster a | REVEL a | GnomAD b | GERP++ c | ACMG classification |
|---|---|---|---|---|---|---|---|---|---|---|
| NM_153816.6: c.712A>T | NP_722523.1: p.Arg238Ter | 86259520 | Nonsense | NA | NA | NA | NA | NA | 5.39 | pathogenic |
| NM_153816.6: c.2744A>T | NP_722523.1: p.Gln915Leu | 86217687 | Missense | Pathogenic | Pathogenic | NA | 0.565 | NA | 5.06 | VUS |
SNX14: sorting nexin 14.
a
Variants assessment by SIFT, PolyPhen2, Mutation Taster, and REVEL. NA is not available.
b
Frequency in unselected individuals in the GnomAD, database.
c
Nucleic acid conservative prediction by GERP.