H51H (p.His51His) variant of SGCA (Alpha-sarcoglycan)
H51H (p.His51His) in SGCA (Alpha-sarcoglycan) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
H51H (p.His51His) variant details
- p.His51His
- gnomAD 17-50167483-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0869
- CADD 0.88
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available