R19R (p.Arg19Arg) variant of APOC3 (Apolipoprotein C-III)
R19R (p.Arg19Arg) in APOC3 (Apolipoprotein C-III) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
R19R (p.Arg19Arg) variant details
- p.Arg19Arg
- gnomAD 11-116830774-A-G
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.496
- CADD 14.30
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available