V35V (p.Val35Val) variant of SGCA (Alpha-sarcoglycan)
V35V (p.Val35Val) in SGCA (Alpha-sarcoglycan) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
V35V (p.Val35Val) variant details
- p.Val35Val
- rs1216131418
- gnomAD 17-50167435-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.319
- CADD 7.41
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available
- Literature evidence available