D32E (p.Asp32Glu) variant of CLCN5 (P51795)
D32E (p.Asp32Glu) in CLCN5 (P51795) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
D32E (p.Asp32Glu) variant details
- p.Asp32Glu
- gnomAD X-50042395-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- REVEL 0.20
- MetaLR 0.35
- MetaSVM -0.78
- CADD 15.50
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available