L72F (p.Leu72Phe) variant of UGT2B7 (UDP-glucuronosyltransferase 2B7)
L72F (p.Leu72Phe) in UGT2B7 (UDP-glucuronosyltransferase 2B7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
L72F (p.Leu72Phe) variant details
- p.Leu72Phe
- 1000Genomes rs61154511
- ExAC rs61154511
- TOPMed rs61154511
- gnomAD rs61154511
- Missense
- Variant Prioritization Score for Impact Estimate 0.141
- REVEL 0.10
- MetaLR 0.09
- MetaSVM -1.02
- CADD 0.02
- PolyPhen-2 0.16
- SIFT 0.14
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available