H47H (p.His47His) variant of GALT (P07902)
H47H (p.His47His) in GALT (P07902) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
H47H (p.His47His) variant details
- p.His47His
- rs2132341583
- gnomAD 9-34647147-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.304
- CADD 12.50
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available