H69H (p.His69His) variant of SGCA (Alpha-sarcoglycan)
H69H (p.His69His) in SGCA (Alpha-sarcoglycan) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
H69H (p.His69His) variant details
- p.His69His
- rs778476146
- gnomAD 17-50167631-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.315
- CADD 12.00
- Population evidence available
- Structural context available
- Literature evidence available