A7G (p.Ala7Gly) variant of CLCN5 (P51795)
A7G (p.Ala7Gly) 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.
A7G (p.Ala7Gly) variant details
- p.Ala7Gly
- gnomAD X-50042319-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.26
- MetaLR 0.49
- MetaSVM -0.31
- CADD 17.40
- PolyPhen-2 0.00
- SIFT 0.58
- Population evidence available
- Structural context available
- Literature evidence available