D29E (p.Asp29Glu) variant of CLCN5 (P51795)
D29E (p.Asp29Glu) in CLCN5 (P51795) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
D29E (p.Asp29Glu) variant details
- p.Asp29Glu
- gnomAD X-50042386-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.31
- MetaLR 0.37
- MetaSVM -0.64
- CADD 14.70
- PolyPhen-2 0.01
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available