L56V (p.Leu56Val) variant of UGT2B7 (UDP-glucuronosyltransferase 2B7)
L56V (p.Leu56Val) in UGT2B7 (UDP-glucuronosyltransferase 2B7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
L56V (p.Leu56Val) variant details
- p.Leu56Val
- rs142158304
- ClinGen CA2944526
- ClinVar RCV004332691
- ESP rs142158304
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.27
- MetaLR 0.37
- MetaSVM -0.68
- CADD 15.60
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.00013)
- Structural context available