Y33C (p.Tyr33Cys) variant of UGT2B7 (UDP-glucuronosyltransferase 2B7)
Y33C (p.Tyr33Cys) in UGT2B7 (UDP-glucuronosyltransferase 2B7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
Y33C (p.Tyr33Cys) variant details
- p.Tyr33Cys
- gnomAD rs1266379801
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.20
- MetaLR 0.35
- MetaSVM -0.70
- CADD 17.80
- PolyPhen-2 0.95
- SIFT 0.03
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available