V71L (p.Val71Leu) variant of GJB6 (Gap junction beta-6 protein)
V71L (p.Val71Leu) in GJB6 (Gap junction beta-6 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and published literature.
V71L (p.Val71Leu) variant details
- p.Val71Leu
- gnomAD 13-20223270-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.542
- MetaLR 0.92
- MetaSVM 0.94
- CADD 21.50
- PolyPhen-2 0.61
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Literature evidence available