L14R (p.Leu14Arg) variant of UGT2B7 (UDP-glucuronosyltransferase 2B7)
L14R (p.Leu14Arg) in UGT2B7 (UDP-glucuronosyltransferase 2B7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
L14R (p.Leu14Arg) variant details
- p.Leu14Arg
- gnomAD 4-69096561-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.27
- MetaLR 0.46
- MetaSVM -0.65
- CADD 20.90
- PolyPhen-2 0.93
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 7.2e-06)
- Structural context available
- Literature evidence available