V54V (p.Val54Val) variant of SGCA (Alpha-sarcoglycan)
V54V (p.Val54Val) in SGCA (Alpha-sarcoglycan) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
V54V (p.Val54Val) variant details
- p.Val54Val
- rs1905015392
- gnomAD 17-50167586-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.119
- CADD 5.38
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available