R43C (p.Arg43Cys) variant of APOE (Apolipoprotein E)
R43C (p.Arg43Cys) in APOE (Apolipoprotein E) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cardiovascular phenotype; Lipoprotein glomerulopathy; Age related macular degene. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
R43C (p.Arg43Cys) variant details
- p.Arg43Cys
- rs121918399
- ClinGen CA127525
- ClinVar RCV000019468
- ClinVar RCV002496418
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; Lipoprotein glomerulopathy; Age related macular degene
- Missense
- Variant Prioritization Score for Impact Estimate 0.516
- REVEL 0.60
- CADD 23.30
- PolyPhen-2 0.16
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; Lipoprotein glomerulopathy; Age relate)
- EBI: Pathogenic (in LPG)
- UniProt: Pathogenic (in LPG)
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available
- Cited in: A novel apolipoprotein E mutation, E2 (Arg25Cys), in lipoprotein glomerulopathy. (PMID 10432380)
- Cited in: APOE Kyoto mutation in European Americans with lipoprotein glomerulopathy. (PMID 18077821)