V38L (p.Val38Leu) variant of GJB6 (Gap junction beta-6 protein)
V38L (p.Val38Leu) in GJB6 (Gap junction beta-6 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
V38L (p.Val38Leu) variant details
- p.Val38Leu
- gnomAD 13-20223369-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.755
- MetaLR 0.92
- MetaSVM 0.89
- CADD 17.20
- PolyPhen-2 0.04
- SIFT 0.24
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available