A57P (p.Ala57Pro) variant of UGT2B7 (UDP-glucuronosyltransferase 2B7)
A57P (p.Ala57Pro) in UGT2B7 (UDP-glucuronosyltransferase 2B7) is a missense change. Clinical records from ClinVar 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 0.30 / 1. The record also includes population frequency data and structural context.
A57P (p.Ala57Pro) variant details
- p.Ala57Pro
- TOPMed rs1207209058
- gnomAD rs1207209058
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.21
- MetaLR 0.26
- MetaSVM -0.84
- CADD 15.00
- PolyPhen-2 0.91
- SIFT 0.11
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 5.8e-05)
- Structural context available