V32V (p.Val32Val) variant of SGCA (Alpha-sarcoglycan)
V32V (p.Val32Val) in SGCA (Alpha-sarcoglycan) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
V32V (p.Val32Val) variant details
- p.Val32Val
- gnomAD 17-50167426-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.439
- CADD 14.50
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available