H42H (p.His42His) variant of SGCA (Alpha-sarcoglycan)
H42H (p.His42His) 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.
H42H (p.His42His) variant details
- p.His42His
- rs1904991745
- gnomAD 17-50167456-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0833
- CADD 0.38
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Literature evidence available