C53W (p.Cys53Trp) variant of GJB2 (Gap junction beta-2 protein)
C53W (p.Cys53Trp) in GJB2 (Gap junction beta-2 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
C53W (p.Cys53Trp) variant details
- p.Cys53Trp
- gnomAD 13-20189423-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.777
- REVEL 0.95
- MetaLR 0.99
- MetaSVM 0.97
- CADD 25.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available