H29H (p.His29His) variant of SGCA (Alpha-sarcoglycan)
H29H (p.His29His) in SGCA (Alpha-sarcoglycan) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
H29H (p.His29His) variant details
- p.His29His
- rs757371081
- gnomAD 17-50167417-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.124
- CADD 4.47
- Most common in the South Asian population (allele frequency 8.1e-05)
- Structural context available
- Literature evidence available