V46G (p.Val46Gly) variant of CLCN5 (P51795)
V46G (p.Val46Gly) in CLCN5 (P51795) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
V46G (p.Val46Gly) variant details
- p.Val46Gly
- gnomAD X-50042436-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.28
- MetaLR 0.46
- MetaSVM -0.27
- CADD 19.90
- PolyPhen-2 0.12
- SIFT 0.71
- Population evidence available
- Structural context available
- Literature evidence available