V43M (p.Val43Met) variant of GJB6 (Gap junction beta-6 protein)
V43M (p.Val43Met) in GJB6 (Gap junction beta-6 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
V43M (p.Val43Met) variant details
- p.Val43Met
- cosmic curated COSV99575
- Missense
- Variant Prioritization Score for Impact Estimate 0.762
- CADD 24.20
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available