V13C (p.Val13Cys) variant of GJB2 (Gap junction beta-2 protein)
V13C (p.Val13Cys) in GJB2 (Gap junction beta-2 protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
V13C (p.Val13Cys) variant details
- p.Val13Cys
- rs80338939
- gnomAD 13-20189546-A-AC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.261
- CADD 25.50
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available
- Literature evidence available