D45Y (p.Asp45Tyr) variant of CLCN5 (P51795)
D45Y (p.Asp45Tyr) in CLCN5 (P51795) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
D45Y (p.Asp45Tyr) variant details
- p.Asp45Tyr
- TOPMed rs1932257432
- Missense
- Variant Prioritization Score for Impact Estimate 0.7
- REVEL 0.63
- MetaLR 0.85
- MetaSVM 0.86
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available