W24S (p.Trp24Ser) variant of GJB2 (Gap junction beta-2 protein)
W24S (p.Trp24Ser) in GJB2 (Gap junction beta-2 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
W24S (p.Trp24Ser) variant details
- p.Trp24Ser
- gnomAD 13-20189511-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.888
- REVEL 0.91
- MetaLR 0.99
- MetaSVM 1.01
- CADD 27.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 7.2e-06)
- Structural context available
- Literature evidence available