E60K (p.Glu60Lys) variant of APOC2 (Apolipoprotein C-II)
E60K (p.Glu60Lys) in APOC2 (Apolipoprotein C-II) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Cardiovascular phenotype; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
E60K (p.Glu60Lys) variant details
- p.Glu60Lys
- rs5122
- ClinGen CA115623
- cosmic curated COSV10457
- ClinVar RCV000002698
- Benign/Likely benign
- Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.176
- REVEL 0.26
- CADD 0.51
- PolyPhen-2 0.00
- SIFT 0.30
- ClinVar: Benign/Likely benign (Cardiovascular phenotype; not provided)
- EBI: Pathogenic (in San Francisco)
- UniProt: Pathogenic (in San Francisco)
- Most common in the 1KG:ASW population (allele frequency 0.02)
- Structural context available
- Cited in: Molecular cloning and characteristics of a new apolipoprotein C-II mutant identified in three unrelated individuals… (PMID 8490626)