F18V (p.Phe18Val) variant of UGT2B7 (UDP-glucuronosyltransferase 2B7)
F18V (p.Phe18Val) in UGT2B7 (UDP-glucuronosyltransferase 2B7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
F18V (p.Phe18Val) variant details
- p.Phe18Val
- ExAC rs764911821
- TOPMed rs764911821
- gnomAD rs764911821
- Missense
- Variant Prioritization Score for Impact Estimate 0.16
- REVEL 0.03
- MetaLR 0.15
- MetaSVM -0.97
- CADD 7.48
- PolyPhen-2 0.34
- SIFT 0.07
- Most common in the South Asian population (allele frequency 0.00041)
- Structural context available