V55L (p.Val55Leu) variant of UGT2B7 (UDP-glucuronosyltransferase 2B7)
V55L (p.Val55Leu) in UGT2B7 (UDP-glucuronosyltransferase 2B7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
V55L (p.Val55Leu) variant details
- p.Val55Leu
- ExAC rs201563351
- gnomAD rs201563351
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.30
- MetaLR 0.35
- MetaSVM -0.62
- CADD 19.20
- PolyPhen-2 0.14
- SIFT 0.03
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00057)
- Structural context available