H42Q (p.His42Gln) variant of SGCA (Alpha-sarcoglycan)
H42Q (p.His42Gln) in SGCA (Alpha-sarcoglycan) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
H42Q (p.His42Gln) variant details
- p.His42Gln
- gnomAD 17-50167456-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.147
- REVEL 0.22
- CADD 0.02
- PolyPhen-2 0.00
- SIFT 0.26
- Population evidence available
- Structural context available
- Literature evidence available