I39L (p.Ile39Leu) variant of UGT2B7 (UDP-glucuronosyltransferase 2B7)
I39L (p.Ile39Leu) in UGT2B7 (UDP-glucuronosyltransferase 2B7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
I39L (p.Ile39Leu) variant details
- p.Ile39Leu
- gnomAD 4-69096635-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0802
- REVEL 0.03
- MetaLR 0.06
- MetaSVM -1.03
- CADD 1.00
- PolyPhen-2 0.02
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available