R4W (p.Arg4Trp) variant of APOC3 (Apolipoprotein C-III)
R4W (p.Arg4Trp) 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 0.35 / 1. The record also includes population frequency data and structural context.
R4W (p.Arg4Trp) variant details
- p.Arg4Trp
- rs754247562
- ClinGen CA6289606
- cosmic curated COSV57138
- ClinVar RCV004089301
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.38
- CADD 21.30
- PolyPhen-2 0.01
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available