R4L (p.Arg4Leu) variant of APOC3 (Apolipoprotein C-III)
R4L (p.Arg4Leu) in APOC3 (Apolipoprotein C-III) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
R4L (p.Arg4Leu) variant details
- p.Arg4Leu
- gnomAD 11-116830593-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- REVEL 0.57
- CADD 22.60
- PolyPhen-2 0.36
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available