L14F (p.Leu14Phe) variant of APOC3 (Apolipoprotein C-III)
L14F (p.Leu14Phe) in APOC3 (Apolipoprotein C-III) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; not provided. 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.
L14F (p.Leu14Phe) variant details
- p.Leu14Phe
- rs571476926
- ClinGen CA6289617
- cosmic curated COSV57138
- ClinVar RCV002323323
- Uncertain significance
- Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.19
- CADD 19.90
- PolyPhen-2 0.08
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:PUR population (allele frequency 0.0051)
- Structural context available