L46P (p.Leu46Pro) variant of UGT2B7 (UDP-glucuronosyltransferase 2B7)
L46P (p.Leu46Pro) in UGT2B7 (UDP-glucuronosyltransferase 2B7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
L46P (p.Leu46Pro) variant details
- p.Leu46Pro
- rs61361928
- ClinGen CA2944517
- cosmic curated COSV10053
- ClinVar RCV000891815
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.547
- REVEL 0.51
- MetaLR 0.81
- MetaSVM 0.12
- CADD 23.50
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:BERGAMOITALIAN population (allele frequency 0.045)
- Structural context available