D71A (p.Asp71Ala) variant of SGCA (Alpha-sarcoglycan)
D71A (p.Asp71Ala) in SGCA (Alpha-sarcoglycan) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
D71A (p.Asp71Ala) variant details
- p.Asp71Ala
- gnomAD 17-50167627-GACAC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.71
- CADD 32.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available