A7D (p.Ala7Asp) variant of CLCN5 (P51795)
A7D (p.Ala7Asp) in CLCN5 (P51795) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
A7D (p.Ala7Asp) variant details
- p.Ala7Asp
- gnomAD X-50042319-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- REVEL 0.33
- MetaLR 0.57
- MetaSVM -0.02
- CADD 18.50
- PolyPhen-2 0.04
- SIFT 0.26
- Population evidence available
- Structural context available
- Literature evidence available