L72V (p.Leu72Val) variant of UGT2B7 (UDP-glucuronosyltransferase 2B7)
L72V (p.Leu72Val) in UGT2B7 (UDP-glucuronosyltransferase 2B7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
L72V (p.Leu72Val) variant details
- p.Leu72Val
- 1000Genomes rs61154511
- ExAC rs61154511
- TOPMed rs61154511
- gnomAD rs61154511
- Missense
- Variant Prioritization Score for Impact Estimate 0.117
- REVEL 0.04
- MetaLR 0.12
- MetaSVM -0.99
- CADD 0.03
- PolyPhen-2 0.38
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available