A57L (p.Ala57Leu) variant of SGCA (Alpha-sarcoglycan)
A57L (p.Ala57Leu) in SGCA (Alpha-sarcoglycan) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
A57L (p.Ala57Leu) variant details
- p.Ala57Leu
- rs1555568264
- gnomAD 17-50167589-AC-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.19
- CADD 15.40
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available
- Literature evidence available