E43K (p.Glu43Lys) variant of CETP (P11597)
E43K (p.Glu43Lys) in CETP (P11597) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
E43K (p.Glu43Lys) variant details
- p.Glu43Lys
- ESP rs141121785
- ExAC rs141121785
- TOPMed rs141121785
- gnomAD rs141121785
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.18
- CADD 18.40
- PolyPhen-2 0.81
- SIFT 0.53
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 9.7e-05)
- Structural context available