V37L (p.Val37Leu) variant of SGCA (Alpha-sarcoglycan)
V37L (p.Val37Leu) in SGCA (Alpha-sarcoglycan) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
V37L (p.Val37Leu) variant details
- p.Val37Leu
- gnomAD 17-50167439-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.621
- REVEL 0.55
- CADD 22.60
- PolyPhen-2 0.04
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available