R4* (p.Arg4Ter) variant of APOC2 (Apolipoprotein C-II)
R4* (p.Arg4Ter) in APOC2 (Apolipoprotein C-II) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
R4* (p.Arg4Ter) variant details
- p.Arg4Ter
- rs202190413
- ClinGen CA9506567
- NCI-TCGA Cosmic COSV9937
- cosmic curated COSV99377
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.46
- CADD 35.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available