W275C (p.Trp275Cys) variant of KCNQ4 (P56696)
W275C (p.Trp275Cys) in KCNQ4 (P56696) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Nonsyndromic genetic hearing loss. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data and structural context.
W275C (p.Trp275Cys) variant details
- p.Trp275Cys
- rs956666801
- ClinGen CA21112664
- ClinVar RCV000599794
- ClinVar RCV000710319
- Likely pathogenic
- Nonsyndromic genetic hearing loss
- Missense
- Variant Prioritization Score for Impact Estimate 0.904
- REVEL 0.93
- MetaLR 0.97
- MetaSVM 1.08
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Nonsyndromic genetic hearing loss)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available