K77R (p.Lys77Arg) variant of APOC2 (Apolipoprotein C-II)
K77R (p.Lys77Arg) 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 Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
K77R (p.Lys77Arg) variant details
- p.Lys77Arg
- gnomAD rs1295045282
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.41
- CADD 23.40
- PolyPhen-2 0.51
- SIFT 0.04
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance (in Africa)
- UniProt: Uncertain significance (in Africa)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available