V52V (p.Val52Val) variant of SGCA (Alpha-sarcoglycan)
V52V (p.Val52Val) in SGCA (Alpha-sarcoglycan) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
V52V (p.Val52Val) variant details
- p.Val52Val
- gnomAD 17-50167486-C-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.0702
- CADD 1.57
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available