A7V (p.Ala7Val) variant of CLCN5 (P51795)
A7V (p.Ala7Val) in CLCN5 (P51795) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
A7V (p.Ala7Val) variant details
- p.Ala7Val
- gnomAD X-50042319-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- REVEL 0.30
- MetaLR 0.57
- MetaSVM -0.04
- CADD 16.90
- PolyPhen-2 0.03
- SIFT 0.62
- Population evidence available
- Structural context available
- Literature evidence available