E63K (p.Glu63Lys) variant of CETP (P11597)
E63K (p.Glu63Lys) in CETP (P11597) 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 0.36 / 1. The record also includes population frequency data and structural context.
E63K (p.Glu63Lys) variant details
- p.Glu63Lys
- 1000Genomes rs745384723
- ExAC rs745384723
- TOPMed rs745384723
- gnomAD rs745384723
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.15
- CADD 16.00
- PolyPhen-2 0.35
- SIFT 0.04
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the HGDP:PALESTINIAN population (allele frequency 0.013)
- Structural context available