A57T (p.Ala57Thr) variant of UGT2B7 (UDP-glucuronosyltransferase 2B7)
A57T (p.Ala57Thr) 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.
A57T (p.Ala57Thr) variant details
- p.Ala57Thr
- cosmic curated COSV10881
- TOPMed rs1207209058
- gnomAD rs1207209058
- Missense
- Variant Prioritization Score for Impact Estimate 0.155
- REVEL 0.03
- MetaLR 0.06
- MetaSVM -1.05
- CADD 1.47
- PolyPhen-2 0.05
- SIFT 1.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available