V3M (p.Val3Met) variant of UGT2B7 (UDP-glucuronosyltransferase 2B7)
V3M (p.Val3Met) in UGT2B7 (UDP-glucuronosyltransferase 2B7) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
V3M (p.Val3Met) variant details
- p.Val3Met
- TOPMed rs1719231396
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0719
- REVEL 0.02
- MetaLR 0.08
- MetaSVM -1.03
- CADD 0.00
- PolyPhen-2 0.02
- SIFT 1.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available