H63H (p.His63His) variant of SGCA (Alpha-sarcoglycan)
H63H (p.His63His) in SGCA (Alpha-sarcoglycan) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
H63H (p.His63His) variant details
- p.His63His
- rs373770886
- gnomAD 17-50167613-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0809
- CADD 0.35
- Most common in the 1KG:PUR population (allele frequency 0.0051)
- Structural context available
- Literature evidence available