A7P (p.Ala7Pro) variant of CLCN5 (P51795)
A7P (p.Ala7Pro) in CLCN5 (P51795) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
A7P (p.Ala7Pro) variant details
- p.Ala7Pro
- gnomAD X-50042318-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.20
- MetaLR 0.58
- MetaSVM -0.06
- CADD 19.30
- PolyPhen-2 0.07
- SIFT 0.24
- Population evidence available
- Structural context available
- Literature evidence available