K89E (p.Lys89Glu) variant of CYP4F2 (Cytochrome P450 4F2)
K89E (p.Lys89Glu) in CYP4F2 (Cytochrome P450 4F2) is a missense change. Clinical records from ClinVar, EBI, 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 0.25 / 1. The record also includes population frequency data and structural context.
K89E (p.Lys89Glu) variant details
- p.Lys89Glu
- rs1471896721
- ClinGen CA404579530
- ClinVar RCV004188424
- TOPMed rs1471896721
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.38
- CADD 2.62
- PolyPhen-2 0.06
- SIFT 0.28
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available