K77Q (p.Lys77Gln) variant of APOC2 (Apolipoprotein C-II)
K77Q (p.Lys77Gln) 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 not specified; Cardiovascular phenotype; Familial apolipoprotein C-II deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
K77Q (p.Lys77Gln) variant details
- p.Lys77Gln
- rs5126
- ClinGen CA115614
- ClinVar RCV000002682
- ClinVar RCV000974450
- Benign/Likely benign
- not specified; Cardiovascular phenotype; Familial apolipoprotein C-II deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.34
- CADD 15.40
- PolyPhen-2 0.23
- SIFT 0.10
- ClinVar: Benign/Likely benign (not specified; Cardiovascular phenotype; Familial apolipoprotein)
- EBI: Pathogenic (in Africa)
- UniProt: Pathogenic (in Africa)
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available
- Cited in: Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis. (PMID 10391210)
- Cited in: A variant primary structure of apolipoprotein C-II in individuals of African descent. (PMID 3944271)