R33L (p.Arg33Leu) variant of APOE (Apolipoprotein E)
R33L (p.Arg33Leu) in APOE (Apolipoprotein E) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
R33L (p.Arg33Leu) variant details
- p.Arg33Leu
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- REVEL 0.35
- CADD 0.05
- PolyPhen-2 0.00
- SIFT 0.34
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available