H69Y (p.His69Tyr) variant of SGCA (Alpha-sarcoglycan)
H69Y (p.His69Tyr) in SGCA (Alpha-sarcoglycan) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
H69Y (p.His69Tyr) variant details
- p.His69Tyr
- gnomAD 17-50167629-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.29
- CADD 18.20
- PolyPhen-2 0.01
- SIFT 0.52
- Population evidence available
- Structural context available
- Literature evidence available