L27M (p.Leu27Met) variant of UGT2B7 (UDP-glucuronosyltransferase 2B7)
L27M (p.Leu27Met) in UGT2B7 (UDP-glucuronosyltransferase 2B7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
L27M (p.Leu27Met) variant details
- p.Leu27Met
- ExAC rs751545826
- TOPMed rs751545826
- gnomAD rs751545826
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.33
- MetaLR 0.58
- MetaSVM -0.34
- CADD 22.50
- PolyPhen-2 1.00
- SIFT 0.35
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available