R74L (p.Arg74Leu) variant of SGCA (Alpha-sarcoglycan)
R74L (p.Arg74Leu) in SGCA (Alpha-sarcoglycan) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
R74L (p.Arg74Leu) variant details
- p.Arg74Leu
- gnomAD 17-50167644-C-CTA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.377
- CADD 25.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available