I74T (p.Ile74Thr) variant of UGT2B7 (UDP-glucuronosyltransferase 2B7)
I74T (p.Ile74Thr) in UGT2B7 (UDP-glucuronosyltransferase 2B7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
I74T (p.Ile74Thr) variant details
- p.Ile74Thr
- 1000Genomes rs371114623
- ESP rs371114623
- ExAC rs371114623
- TOPMed rs371114623
- Missense
- Variant Prioritization Score for Impact Estimate 0.183
- REVEL 0.08
- MetaLR 0.08
- MetaSVM -1.01
- CADD 14.60
- PolyPhen-2 0.24
- SIFT 0.01
- Most common in the HGDP:CAMBODIAN population (allele frequency 0.05)
- Structural context available