V63M (p.Val63Met) variant of GJB6 (Gap junction beta-6 protein)
V63M (p.Val63Met) in GJB6 (Gap junction beta-6 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
V63M (p.Val63Met) variant details
- p.Val63Met
- TOPMed rs1355233247
- gnomAD rs1355233247
- Missense
- Variant Prioritization Score for Impact Estimate 0.753
- CADD 25.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available