K46Q (p.Lys46Gln) variant of CETP (P11597)
K46Q (p.Lys46Gln) in CETP (P11597) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
K46Q (p.Lys46Gln) variant details
- p.Lys46Gln
- ExAC rs775077692
- TOPMed rs775077692
- gnomAD rs775077692
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- REVEL 0.05
- CADD 12.00
- PolyPhen-2 0.09
- SIFT 0.46
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available