A35S (p.Ala35Ser) variant of CLCN5 (P51795)
A35S (p.Ala35Ser) in CLCN5 (P51795) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
A35S (p.Ala35Ser) variant details
- p.Ala35Ser
- gnomAD X-50042402-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.26
- MetaLR 0.44
- MetaSVM -0.40
- CADD 17.10
- PolyPhen-2 0.00
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available