D9Y (p.Asp9Tyr) variant of CLCN5 (P51795)
D9Y (p.Asp9Tyr) in CLCN5 (P51795) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
D9Y (p.Asp9Tyr) variant details
- p.Asp9Tyr
- cosmic curated COSV10749
- Ensembl rs1557187248
- Missense
- Variant Prioritization Score for Impact Estimate 0.568
- REVEL 0.59
- MetaLR 0.70
- MetaSVM 0.43
- CADD 25.10
- PolyPhen-2 0.65
- SIFT 0.05
- Population evidence available
- Structural context available