R269G (p.Arg269Gly) variant of APOE (Apolipoprotein E)
R269G (p.Arg269Gly) in APOE (Apolipoprotein E) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Alzheimer disease 3; Alzheimer disease 2; Alzheimer disease 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
R269G (p.Arg269Gly) variant details
- p.Arg269Gly
- rs267606661
- ClinGen CA041514
- ClinVar RCV000019455
- ClinVar RCV001565388
- Uncertain significance
- Alzheimer disease 3; Alzheimer disease 2; Alzheimer disease 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.553
- REVEL 0.58
- CADD 23.30
- PolyPhen-2 0.53
- SIFT 0.00
- ClinVar: Uncertain significance (Alzheimer disease 3; Alzheimer disease 2; Alzheimer disease 4)
- EBI: Pathogenic (in ApoE3 HB)
- UniProt: Pathogenic (in ApoE3 HB)
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available
- Cited in: Characterization of five new mutants in the carboxyl-terminal domain of human apolipoprotein E: no cosegregation with… (PMID 8488843)
- Cited in: Apolipoprotein E R112; R251G: a carboxy-terminal variant found in patients with hyperlipidemia and coronary heart… (PMID 9360638)