A40T (p.Ala40Thr) variant of GJB6 (Gap junction beta-6 protein)
A40T (p.Ala40Thr) 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.
A40T (p.Ala40Thr) variant details
- p.Ala40Thr
- gnomAD 13-20223363-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.828
- MetaLR 0.97
- MetaSVM 1.10
- CADD 23.90
- PolyPhen-2 0.80
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available