G321S (p.Gly321Ser) variant of KCNQ4 (P56696)
G321S (p.Gly321Ser) in KCNQ4 (P56696) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Rare genetic deafness; not provided; Autosomal dominant nonsyndromic hearing los. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
G321S (p.Gly321Ser) variant details
- p.Gly321Ser
- rs28939710
- ClinGen CA340534
- ClinVar RCV000006621
- ClinVar RCV001195307
- Pathogenic/Likely pathogenic
- Rare genetic deafness; not provided; Autosomal dominant nonsyndromic hearing los
- Missense
- Variant Prioritization Score for Impact Estimate 0.796
- REVEL 0.94
- MetaLR 0.38
- MetaSVM -0.27
- CADD 26.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Rare genetic deafness; not provided; Autosomal dominant nonsyndr)
- EBI: Pathogenic (in DFNA2A)
- UniProt: Pathogenic (in DFNA2A)
- Population evidence available
- Structural context available
- Cited in: Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families. (PMID 10369879)
- Cited in: Linkage of autosomal dominant hearing loss to the short arm of chromosome 1 in two families. (PMID 8035838)