C23Y (p.Cys23Tyr) variant of UGT2B7 (UDP-glucuronosyltransferase 2B7)
C23Y (p.Cys23Tyr) in UGT2B7 (UDP-glucuronosyltransferase 2B7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
C23Y (p.Cys23Tyr) variant details
- p.Cys23Tyr
- ExAC rs758225308
- gnomAD rs758225308
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.18
- MetaLR 0.37
- MetaSVM -0.62
- CADD 22.70
- PolyPhen-2 0.99
- SIFT 1.00
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available