K46E (p.Lys46Glu) variant of CETP (P11597)
K46E (p.Lys46Glu) in CETP (P11597) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
K46E (p.Lys46Glu) variant details
- p.Lys46Glu
- cosmic curated COSV99569
- ExAC rs775077692
- TOPMed rs775077692
- gnomAD rs775077692
- Uncertain significance
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.07
- CADD 14.20
- PolyPhen-2 0.23
- SIFT 0.22
- ClinVar: Uncertain significance (not specified; not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available