C130R (p.Cys130Arg) variant of APOE (Apolipoprotein E)
C130R (p.Cys130Arg) in APOE (Apolipoprotein E) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as association in the context of APOE5 VARIANT. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
C130R (p.Cys130Arg) variant details
- p.Cys130Arg
- rs429358
- ClinGen CA127512
- ClinVar RCV000019438
- ClinVar RCV000019448
- association
- APOE5 VARIANT
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.23
- AlphaMissense 0.04
- MetaLR 0.00
- MetaSVM -1.01
- CADD 16.60
- PolyPhen-2 0.00
- ClinVar: association (APOE5 VARIANT)
- EBI: Pathogenic (in HLPP3 and AD2)
- UniProt: Pathogenic (in HLPP3 and AD2)
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available
- Cited in: Association of apolipoprotein E polymorphism with outcome after head injury. (PMID 10213549)
- Cited in: Virus-mediated transduction of apolipoprotein E (ApoE)-sendai develops lipoprotein glomerulopathy in ApoE-deficient… (PMID 10903326)