R19G (p.Arg19Gly) variant of APOC3 (Apolipoprotein C-III)
R19G (p.Arg19Gly) in APOC3 (Apolipoprotein C-III) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
R19G (p.Arg19Gly) variant details
- p.Arg19Gly
- ESP rs76353203
- ExAC rs76353203
- TOPMed rs76353203
- gnomAD rs76353203
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- REVEL 0.23
- CADD 18.10
- PolyPhen-2 0.02
- SIFT 0.04
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available