H38H (p.His38His) variant of SGCA (Alpha-sarcoglycan)
H38H (p.His38His) in SGCA (Alpha-sarcoglycan) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
H38H (p.His38His) variant details
- p.His38His
- rs1451369268
- gnomAD 17-50167444-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.425
- CADD 8.50
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available
- Literature evidence available