R163P (p.Arg163Pro) variant of APOE (Apolipoprotein E)
R163P (p.Arg163Pro) in APOE (Apolipoprotein E) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Lipoprotein glomerulopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
R163P (p.Arg163Pro) variant details
- p.Arg163Pro
- rs121918397
- ClinGen CA127524
- ClinVar RCV000019466
- UniProt VAR 042735
- Pathogenic
- Lipoprotein glomerulopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.62
- REVEL 0.70
- AlphaMissense 0.16
- MetaLR 0.52
- MetaSVM 0.14
- CADD 25.60
- PolyPhen-2 0.66
- ClinVar: Pathogenic (Lipoprotein glomerulopathy)
- EBI: Pathogenic (in LPG)
- UniProt: Pathogenic (in LPG)
- Population evidence available
- Structural context available
- Cited in: Virus-mediated transduction of apolipoprotein E (ApoE)-sendai develops lipoprotein glomerulopathy in ApoE-deficient… (PMID 10903326)
- Cited in: Apolipoprotein E Sendai (arginine 145-->proline): a new variant associated with lipoprotein glomerulopathy. (PMID 9176854)