S19I (p.Ser19Ile) variant of UGT2B7 (UDP-glucuronosyltransferase 2B7)
S19I (p.Ser19Ile) in UGT2B7 (UDP-glucuronosyltransferase 2B7) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
S19I (p.Ser19Ile) variant details
- p.Ser19Ile
- gnomAD 4-69096574-T-TATA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.181
- CADD 14.10
- Population evidence available
- Structural context available
- Literature evidence available