A57E (p.Ala57Glu) variant of UGT2B7 (UDP-glucuronosyltransferase 2B7)
A57E (p.Ala57Glu) in UGT2B7 (UDP-glucuronosyltransferase 2B7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
A57E (p.Ala57Glu) variant details
- p.Ala57Glu
- 1000Genomes rs147538491
- ExAC rs147538491
- gnomAD rs147538491
- Missense
- Variant Prioritization Score for Impact Estimate 0.165
- REVEL 0.14
- MetaLR 0.22
- MetaSVM -0.83
- CADD 8.64
- PolyPhen-2 0.71
- SIFT 0.32
- Most common in the 1KG:JPT population (allele frequency 0.0049)
- Structural context available