I249F (p.Ile249Phe) variant of PSEN1 (Presenilin-1)
I249F (p.Ile249Phe) in PSEN1 (Presenilin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Pick disease; Acne inversa, familial, 3; Alzheimer disease 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes published literature and structural context.
I249F (p.Ile249Phe) variant details
- p.Ile249Phe
- rs1362575880
- ClinGen CA390299862
- ClinVar RCV001980594
- gnomAD rs1362575880
- Likely pathogenic
- Pick disease; Acne inversa, familial, 3; Alzheimer disease 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.641
- AlphaMissense 0.26
- MetaLR 0.96
- MetaSVM 1.03
- PolyPhen-2 0.23
- SIFT 0.23
- EVE 0.15
- ClinVar: Likely pathogenic (Pick disease; Acne inversa, familial, 3; Alzheimer disease 3)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)
- Cited in: Alzheimer Disease Overview. (PMID 20301340)