R4G (p.Arg4Gly) variant of APOC3 (Apolipoprotein C-III)
R4G (p.Arg4Gly) in APOC3 (Apolipoprotein C-III) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
R4G (p.Arg4Gly) variant details
- p.Arg4Gly
- 1000Genomes rs754247562
- ExAC rs754247562
- TOPMed rs754247562
- gnomAD rs754247562
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.42
- CADD 18.60
- PolyPhen-2 0.06
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available