R56C (p.Arg56Cys) variant of APOE (Apolipoprotein E)
R56C (p.Arg56Cys) 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 0.56 / 1. The record also includes population frequency data and structural context.
R56C (p.Arg56Cys) variant details
- p.Arg56Cys
- NCI-TCGA Cosmic COSV5298
- TOPMed rs1969838696
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.562
- REVEL 0.60
- CADD 26.10
- PolyPhen-2 0.71
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available