W24R (p.Trp24Arg) variant of GJB6 (Gap junction beta-6 protein)
W24R (p.Trp24Arg) in GJB6 (Gap junction beta-6 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
W24R (p.Trp24Arg) variant details
- p.Trp24Arg
- gnomAD 13-20223411-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.764
- MetaLR 0.99
- MetaSVM 1.00
- CADD 28.80
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available