A60S (p.Ala60Ser) variant of UGT2B7 (UDP-glucuronosyltransferase 2B7)
A60S (p.Ala60Ser) 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 0.24 / 1. The record also includes population frequency data and structural context.
A60S (p.Ala60Ser) variant details
- p.Ala60Ser
- rs1314561243
- ClinGen CA357095414
- ClinVar RCV004290000
- TOPMed rs1314561243
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.05
- MetaLR 0.15
- MetaSVM -0.97
- CADD 0.52
- PolyPhen-2 0.05
- SIFT 0.22
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available