T54S (p.Thr54Ser) variant of UGT2B7 (UDP-glucuronosyltransferase 2B7)
T54S (p.Thr54Ser) in UGT2B7 (UDP-glucuronosyltransferase 2B7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
T54S (p.Thr54Ser) variant details
- p.Thr54Ser
- cosmic curated COSV59444
- ESP rs376374784
- ExAC rs376374784
- TOPMed rs376374784
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.33
- MetaLR 0.37
- MetaSVM -0.62
- CADD 21.60
- PolyPhen-2 0.91
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available