D71E (p.Asp71Glu) variant of SGCA (Alpha-sarcoglycan)
D71E (p.Asp71Glu) in SGCA (Alpha-sarcoglycan) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
D71E (p.Asp71Glu) variant details
- p.Asp71Glu
- gnomAD 17-50167637-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.679
- REVEL 0.83
- CADD 25.20
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available