H59H (p.His59His) variant of SGCA (Alpha-sarcoglycan)
H59H (p.His59His) 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.
H59H (p.His59His) variant details
- p.His59His
- rs199902950
- gnomAD 17-50167601-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0909
- CADD 1.45
- Most common in the REMAINING population (allele frequency 8.3e-05)
- Structural context available
- Literature evidence available