D2A (p.Asp2Ala) variant of GJB6 (Gap junction beta-6 protein)
D2A (p.Asp2Ala) in GJB6 (Gap junction beta-6 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and published literature.
D2A (p.Asp2Ala) variant details
- p.Asp2Ala
- gnomAD 13-20223476-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.717
- MetaLR 0.94
- MetaSVM 1.15
- CADD 24.50
- PolyPhen-2 0.54
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Literature evidence available