A39P (p.Ala39Pro) variant of GJB6 (Gap junction beta-6 protein)
A39P (p.Ala39Pro) 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.
A39P (p.Ala39Pro) variant details
- p.Ala39Pro
- gnomAD rs1473999879
- Missense
- Variant Prioritization Score for Impact Estimate 0.763
- CADD 24.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available