S59Y (p.Ser59Tyr) variant of UGT2B7 (UDP-glucuronosyltransferase 2B7)
S59Y (p.Ser59Tyr) in UGT2B7 (UDP-glucuronosyltransferase 2B7) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
S59Y (p.Ser59Tyr) variant details
- p.Ser59Tyr
- rs1719239304
- gnomAD 4-69096695-T-TA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.435
- CADD 17.60
- Population evidence available
- Structural context available
- Literature evidence available