S19* (p.Ser19Ter) variant of UGT2B7 (UDP-glucuronosyltransferase 2B7)
S19* (p.Ser19Ter) in UGT2B7 (UDP-glucuronosyltransferase 2B7) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
S19* (p.Ser19Ter) variant details
- p.Ser19Ter
- rs1183643062
- gnomAD 4-69096571-C-CT
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.556
- CADD 14.20
- Population evidence available
- Structural context available
- Literature evidence available