R269H (p.Arg269His) variant of PSEN1 (Presenilin-1)
R269H (p.Arg269His) in PSEN1 (Presenilin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Acne inversa, familial, 3; Frontotemporal dementia; Alzheimer disease 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
R269H (p.Arg269His) variant details
- p.Arg269His
- rs63750900
- ClinGen CA225122
- ClinVar RCV000031858
- ClinVar RCV000084374
- Pathogenic
- Acne inversa, familial, 3; Frontotemporal dementia; Alzheimer disease 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.894
- REVEL 0.94
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Acne inversa, familial, 3; Frontotemporal dementia; Alzheimer di)
- EBI: Pathogenic (in AD3)
- UniProt: Pathogenic (in AD3)
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available
- Cited in: Early onset familial Alzheimer's disease: Mutation frequency in 31 families. (PMID 12552037)
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)