A37D (p.Ala37Asp) variant of CLCN5 (P51795)
A37D (p.Ala37Asp) in CLCN5 (P51795) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
A37D (p.Ala37Asp) variant details
- p.Ala37Asp
- gnomAD X-50042409-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.35
- MetaLR 0.50
- MetaSVM -0.24
- CADD 16.90
- PolyPhen-2 0.03
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available