D44Y (p.Asp44Tyr) variant of CLCN5 (P51795)
D44Y (p.Asp44Tyr) in CLCN5 (P51795) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
D44Y (p.Asp44Tyr) variant details
- p.Asp44Tyr
- gnomAD X-50042429-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.643
- REVEL 0.53
- MetaLR 0.82
- MetaSVM 0.80
- CADD 25.80
- PolyPhen-2 0.88
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available