G34C (p.Gly34Cys) variant of APOC3 (Apolipoprotein C-III)
G34C (p.Gly34Cys) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
G34C (p.Gly34Cys) variant details
- p.Gly34Cys
- rs1435306047
- ClinGen CA382709964
- NCI-TCGA Cosmic COSV5263
- cosmic curated COSV52636
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- REVEL 0.48
- CADD 24.90
- PolyPhen-2 0.87
- SIFT 0.01
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available