V32L (p.Val32Leu) variant of SGCA (Alpha-sarcoglycan)
V32L (p.Val32Leu) in SGCA (Alpha-sarcoglycan) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
V32L (p.Val32Leu) variant details
- p.Val32Leu
- gnomAD 17-50167424-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.716
- REVEL 0.69
- CADD 24.50
- PolyPhen-2 0.55
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available