D27Y (p.Asp27Tyr) variant of CLCN5 (P51795)
D27Y (p.Asp27Tyr) in CLCN5 (P51795) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
D27Y (p.Asp27Tyr) variant details
- p.Asp27Tyr
- gnomAD X-50042378-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.724
- REVEL 0.68
- MetaLR 0.85
- MetaSVM 0.87
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available