L63F (p.Leu63Phe) variant of UGT2B7 (UDP-glucuronosyltransferase 2B7)
L63F (p.Leu63Phe) in UGT2B7 (UDP-glucuronosyltransferase 2B7) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
L63F (p.Leu63Phe) variant details
- p.Leu63Phe
- cosmic curated COSV10518
- ExAC rs750369010
- TOPMed rs750369010
- gnomAD rs750369010
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.109
- REVEL 0.03
- MetaLR 0.09
- MetaSVM -1.03
- CADD 0.01
- PolyPhen-2 0.03
- SIFT 0.63
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available