R278I (p.Arg278Ile) variant of PSEN1 (Presenilin-1)
R278I (p.Arg278Ile) in PSEN1 (Presenilin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Frontotemporal dementia; Alzheimer disease 3; Acne inversa, familial, 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
R278I (p.Arg278Ile) variant details
- p.Arg278Ile
- rs63749891
- ClinGen CA225129
- ClinVar RCV000019782
- ClinVar RCV000084379
- Pathogenic
- Frontotemporal dementia; Alzheimer disease 3; Acne inversa, familial, 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.974
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.98
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.99
- ClinVar: Pathogenic (Frontotemporal dementia; Alzheimer disease 3; Acne inversa, fami)
- EBI: Pathogenic (in AD3)
- UniProt: Pathogenic (in AD3)
- Structural context available
- Cited in: The role of presenilin cofactors in the gamma-secretase complex. (PMID 12660785)
- Cited in: A presenilin 1 R278I mutation presenting with language impairment. (PMID 15534260)