V85L (p.Val85Leu) variant of GJA5 (Gap junction alpha-5 protein)
V85L (p.Val85Leu) in GJA5 (Gap junction alpha-5 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and published literature.
V85L (p.Val85Leu) variant details
- p.Val85Leu
- gnomAD 1-147758986-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.822
- MetaLR 0.98
- MetaSVM 1.07
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Literature evidence available