G17E (p.Gly17Glu) variant of SGCA (Alpha-sarcoglycan)
G17E (p.Gly17Glu) in SGCA (Alpha-sarcoglycan) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
G17E (p.Gly17Glu) variant details
- p.Gly17Glu
- gnomAD 17-50167380-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.553
- REVEL 0.47
- CADD 12.80
- PolyPhen-2 0.00
- SIFT 0.29
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available