K41T (p.Lys41Thr) variant of APOC2 (Apolipoprotein C-II)
K41T (p.Lys41Thr) in APOC2 (Apolipoprotein C-II) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
K41T (p.Lys41Thr) variant details
- p.Lys41Thr
- rs120074114
- ClinGen CA115621
- cosmic curated COSV52990
- ClinVar RCV000002697
- Conflicting interpretations
- Cardiovascular phenotype; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.47
- CADD 16.90
- PolyPhen-2 0.04
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not specified; not provided)
- EBI: Pathogenic (in dbSNP:rs120074114)
- UniProt: Pathogenic (in dbSNP:rs120074114)
- Most common in the HGDP:ADYGEI population (allele frequency 0.059)
- Structural context available
- Cited in: An apolipoprotein CII mutation, CIILys19----Thr' identified in patients with hyperlipidemia. (PMID 1782747)
- Cited in: The apolipoprotein C-II variant apoC-IILys19-->Thr is not associated with dyslipidemia in an affected kindred. (PMID 7923858)