V37M (p.Val37Met) variant of SGCA (Alpha-sarcoglycan)
V37M (p.Val37Met) in SGCA (Alpha-sarcoglycan) 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, published literature, and structural context.
V37M (p.Val37Met) variant details
- p.Val37Met
- gnomAD 17-50167439-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.704
- REVEL 0.65
- CADD 26.20
- PolyPhen-2 0.91
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available