T41I (p.Thr41Ile) variant of UGT2B7 (UDP-glucuronosyltransferase 2B7)
T41I (p.Thr41Ile) in UGT2B7 (UDP-glucuronosyltransferase 2B7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
T41I (p.Thr41Ile) variant details
- p.Thr41Ile
- ExAC rs58632287
- TOPMed rs58632287
- gnomAD rs58632287
- Missense
- Variant Prioritization Score for Impact Estimate 0.203
- REVEL 0.05
- MetaLR 0.12
- MetaSVM -0.95
- CADD 0.22
- PolyPhen-2 0.07
- SIFT 0.60
- Most common in the African/African-American population (allele frequency 0.00017)
- Structural context available