A39T (p.Ala39Thr) variant of GJB6 (Gap junction beta-6 protein)
A39T (p.Ala39Thr) in GJB6 (Gap junction beta-6 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
A39T (p.Ala39Thr) variant details
- p.Ala39Thr
- gnomAD 13-20223366-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.828
- MetaLR 0.98
- MetaSVM 1.09
- CADD 23.00
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available