p.Arg74delinsLeuThrHisPheSerAspV variant of SGCA (Alpha-sarcoglycan)
p.Arg74delinsLeuThrHisPheSerAspV in SGCA (Alpha-sarcoglycan) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
p.Arg74delinsLeuThrHisPheSerAspV variant details
- gnomAD 17-50167644-C-CTA
- Protein Altering
- Variant Prioritization Score for Impact Estimate 0.371
- CADD 24.90
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available