D29G (p.Asp29Gly) variant of CLCN5 (P51795)
D29G (p.Asp29Gly) in CLCN5 (P51795) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
D29G (p.Asp29Gly) variant details
- p.Asp29Gly
- gnomAD X-50042385-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- REVEL 0.37
- MetaLR 0.56
- MetaSVM -0.06
- CADD 23.30
- PolyPhen-2 0.33
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available