C17Y (p.Cys17Tyr) variant of UGT2B7 (UDP-glucuronosyltransferase 2B7)
C17Y (p.Cys17Tyr) in UGT2B7 (UDP-glucuronosyltransferase 2B7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
C17Y (p.Cys17Tyr) variant details
- p.Cys17Tyr
- gnomAD 4-69096570-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.108
- REVEL 0.09
- MetaLR 0.06
- MetaSVM -1.04
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available