R32A (p.Arg32Ala) variant of GJB2 (Gap junction beta-2 protein)
R32A (p.Arg32Ala) in GJB2 (Gap junction beta-2 protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
R32A (p.Arg32Ala) variant details
- p.Arg32Ala
- rs1959062825
- gnomAD 13-20189488-GA-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.583
- CADD 22.70
- Population evidence available
- Structural context available
- Literature evidence available