A37S (p.Ala37Ser) variant of CLCN5 (P51795)
A37S (p.Ala37Ser) in CLCN5 (P51795) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
A37S (p.Ala37Ser) variant details
- p.Ala37Ser
- gnomAD X-50042408-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.22
- MetaLR 0.32
- MetaSVM -0.72
- CADD 9.43
- PolyPhen-2 0.00
- SIFT 0.78
- Population evidence available
- Structural context available
- Literature evidence available