W224R (p.Trp224Arg) variant of KCNQ4 (P56696)
W224R (p.Trp224Arg) in KCNQ4 (P56696) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Autosomal dominant nonsyndromic hearing loss 2A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
W224R (p.Trp224Arg) variant details
- p.Trp224Arg
- rs2523882381
- ClinGen CA339894747
- ClinVar RCV002470465
- Likely pathogenic
- Autosomal dominant nonsyndromic hearing loss 2A
- Missense
- Variant Prioritization Score for Impact Estimate 0.86
- REVEL 0.95
- MetaLR 0.94
- MetaSVM 1.07
- CADD 33.00
- PolyPhen-2 0.93
- SIFT 0.00
- ClinVar: Likely pathogenic (Autosomal dominant nonsyndromic hearing loss 2A)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: DFNA2 Nonsyndromic Hearing Loss. (PMID 20301388)
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)