H59Q (p.His59Gln) variant of SGCA (Alpha-sarcoglycan)
H59Q (p.His59Gln) in SGCA (Alpha-sarcoglycan) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
H59Q (p.His59Gln) variant details
- p.His59Gln
- gnomAD 17-50167601-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.141
- REVEL 0.19
- CADD 2.86
- PolyPhen-2 0.03
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available