R19Q (p.Arg19Gln) variant of APOC3 (Apolipoprotein C-III)
R19Q (p.Arg19Gln) in APOC3 (Apolipoprotein C-III) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
R19Q (p.Arg19Gln) variant details
- p.Arg19Gln
- gnomAD 11-116830773-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.20
- CADD 23.00
- PolyPhen-2 0.01
- SIFT 0.16
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available