H31H (p.His31His) variant of GALT (P07902)
H31H (p.His31His) in GALT (P07902) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
H31H (p.His31His) variant details
- p.His31His
- gnomAD 9-34647099-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.315
- CADD 13.50
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available