D66Y (p.Asp66Tyr) variant of GJB6 (Gap junction beta-6 protein)
D66Y (p.Asp66Tyr) in GJB6 (Gap junction beta-6 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and published literature.
D66Y (p.Asp66Tyr) variant details
- p.Asp66Tyr
- gnomAD 13-20223285-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.851
- MetaLR 0.99
- MetaSVM 1.00
- CADD 26.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Literature evidence available