D9E (p.Asp9Glu) variant of CLCN5 (P51795)
D9E (p.Asp9Glu) in CLCN5 (P51795) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
D9E (p.Asp9Glu) variant details
- p.Asp9Glu
- gnomAD X-50042326-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.232
- REVEL 0.15
- MetaLR 0.49
- MetaSVM -0.37
- CADD 17.10
- PolyPhen-2 0.06
- SIFT 0.74
- Population evidence available
- Structural context available
- Literature evidence available