F177S (p.Phe177Ser) variant of PSEN1 (Presenilin-1)
F177S (p.Phe177Ser) in PSEN1 (Presenilin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Alzheimer disease 3; Acne inversa, familial, 3; Frontotemporal dementia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
F177S (p.Phe177Ser) variant details
- p.Phe177Ser
- rs63749806
- ClinGen CA225057
- ClinVar RCV000084333
- ClinVar RCV002513898
- Pathogenic
- Alzheimer disease 3; Acne inversa, familial, 3; Frontotemporal dementia
- Missense
- Variant Prioritization Score for Impact Estimate 0.952
- AlphaMissense 0.96
- MetaLR 0.99
- MetaSVM 1.04
- PolyPhen-2 0.97
- SIFT 0.00
- EVE 0.91
- ClinVar: Pathogenic (Alzheimer disease 3; Acne inversa, familial, 3; Frontotemporal d)
- EBI: Pathogenic (in AD3)
- UniProt: Pathogenic (in AD3)
- Structural context available
- Cited in: Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations. (PMID 11524469)
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)