T6S (p.Thr6Ser) variant of UGT2B7 (UDP-glucuronosyltransferase 2B7)
T6S (p.Thr6Ser) 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 0.07 / 1. The record also includes population frequency data and structural context.
T6S (p.Thr6Ser) variant details
- p.Thr6Ser
- TOPMed rs1719231880
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0705
- REVEL 0.01
- MetaLR 0.14
- MetaSVM -1.02
- CADD 0.32
- PolyPhen-2 0.20
- SIFT 0.67
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available