R33C (p.Arg33Cys) variant of APOE (Apolipoprotein E)
R33C (p.Arg33Cys) in APOE (Apolipoprotein E) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
R33C (p.Arg33Cys) variant details
- p.Arg33Cys
- ExAC rs752079771
- TOPMed rs752079771
- gnomAD rs752079771
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.28
- CADD 13.50
- PolyPhen-2 0.14
- SIFT 0.05
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available