V58V (p.Val58Val) variant of SGCA (Alpha-sarcoglycan)
V58V (p.Val58Val) in SGCA (Alpha-sarcoglycan) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
V58V (p.Val58Val) variant details
- p.Val58Val
- rs1167800537
- gnomAD 17-50167598-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.098
- CADD 2.45
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available