L46F (p.Leu46Phe) variant of UGT2B7 (UDP-glucuronosyltransferase 2B7)
L46F (p.Leu46Phe) in UGT2B7 (UDP-glucuronosyltransferase 2B7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
L46F (p.Leu46Phe) variant details
- p.Leu46Phe
- cosmic curated COSV59442
- gnomAD rs1156473639
- Missense
- Variant Prioritization Score for Impact Estimate 0.589
- REVEL 0.58
- MetaLR 0.80
- MetaSVM 0.14
- CADD 22.70
- PolyPhen-2 1.00
- SIFT 0.18
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available