E69K (p.Glu69Lys) variant of APOC2 (Apolipoprotein C-II)
E69K (p.Glu69Lys) in APOC2 (Apolipoprotein C-II) is a missense change. Clinical records from ClinVar, EBI, 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 0.63 / 1. The record also includes population frequency data and structural context.
E69K (p.Glu69Lys) variant details
- p.Glu69Lys
- rs148445956
- ClinGen CA308875910
- ClinVar RCV002721160
- 1000Genomes rs148445956
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.633
- REVEL 0.75
- CADD 26.00
- PolyPhen-2 0.98
- SIFT 0.03
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available