V46A (p.Val46Ala) variant of CLCN5 (P51795)
V46A (p.Val46Ala) 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.
V46A (p.Val46Ala) variant details
- p.Val46Ala
- gnomAD X-50042436-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.30
- MetaLR 0.41
- MetaSVM -0.42
- CADD 18.30
- PolyPhen-2 0.11
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available