A39D (p.Ala39Asp) variant of GJB6 (Gap junction beta-6 protein)
A39D (p.Ala39Asp) 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.
A39D (p.Ala39Asp) variant details
- p.Ala39Asp
- TOPMed rs1369386944
- gnomAD rs1369386944
- Missense
- Variant Prioritization Score for Impact Estimate 0.758
- CADD 24.50
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available