G285S (p.Gly285Ser) variant of KCNQ4 (P56696)
G285S (p.Gly285Ser) in KCNQ4 (P56696) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Nonsyndromic genetic hearing loss. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
G285S (p.Gly285Ser) variant details
- p.Gly285Ser
- rs28937588
- ClinGen CA340532
- cosmic curated COSV61273
- ClinVar RCV000006619
- Pathogenic
- Nonsyndromic genetic hearing loss
- Missense
- Variant Prioritization Score for Impact Estimate 0.87
- REVEL 0.97
- MetaLR 0.62
- MetaSVM 0.47
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Nonsyndromic genetic hearing loss)
- EBI: Pathogenic (in DFNA2A)
- UniProt: Pathogenic (in DFNA2A)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness. (PMID 10025409)
- Cited in: Cellular and molecular mechanisms of autosomal dominant form of progressive hearing loss, DFNA2. (PMID 20966080)