V12V (p.Val12Val) variant of SGCA (Alpha-sarcoglycan)
V12V (p.Val12Val) in SGCA (Alpha-sarcoglycan) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
V12V (p.Val12Val) variant details
- p.Val12Val
- rs998483886
- gnomAD 17-50166076-G-C
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.482
- CADD 3.63
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Literature evidence available