P34L (p.Pro34Leu) variant of APOC2 (Apolipoprotein C-II)
P34L (p.Pro34Leu) 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; Familial apolipoprotein C-II deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
P34L (p.Pro34Leu) variant details
- p.Pro34Leu
- rs200404502
- ClinGen CA9506604
- ClinVar RCV002367115
- ClinVar RCV005019189
- Uncertain significance
- Cardiovascular phenotype; Familial apolipoprotein C-II deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.19
- CADD 11.10
- PolyPhen-2 0.01
- SIFT 0.06
- ClinVar: Uncertain significance (Cardiovascular phenotype; Familial apolipoprotein C-II deficienc)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CHS population (allele frequency 0.0049)
- Structural context available