I39T (p.Ile39Thr) variant of UGT2B7 (UDP-glucuronosyltransferase 2B7)
I39T (p.Ile39Thr) in UGT2B7 (UDP-glucuronosyltransferase 2B7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
I39T (p.Ile39Thr) variant details
- p.Ile39Thr
- gnomAD 4-69096636-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.23
- MetaLR 0.23
- MetaSVM -0.85
- CADD 16.00
- PolyPhen-2 0.20
- SIFT 0.29
- Population evidence available
- Structural context available
- Literature evidence available