L14M (p.Leu14Met) variant of UGT2B7 (UDP-glucuronosyltransferase 2B7)
L14M (p.Leu14Met) in UGT2B7 (UDP-glucuronosyltransferase 2B7) is a missense change. Clinical records from EBI and UniProt describe it as drug response. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
L14M (p.Leu14Met) variant details
- p.Leu14Met
- TOPMed rs1412192907
- gnomAD rs1412192907
- Drug response
- Missense
- Variant Prioritization Score for Impact Estimate 0.184
- REVEL 0.10
- MetaLR 0.42
- MetaSVM -0.68
- CADD 10.90
- PolyPhen-2 0.48
- SIFT 0.15
- EBI: Drug response
- UniProt: Drug response
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available