K4E (p.Lys4Glu) variant of UGT2B7 (UDP-glucuronosyltransferase 2B7)
K4E (p.Lys4Glu) in UGT2B7 (UDP-glucuronosyltransferase 2B7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
K4E (p.Lys4Glu) variant details
- p.Lys4Glu
- TOPMed rs1404170117
- gnomAD rs1404170117
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.06
- MetaLR 0.18
- MetaSVM -0.91
- CADD 19.30
- PolyPhen-2 0.84
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available