P267L (p.Pro267Leu) variant of PSEN1 (Presenilin-1)
P267L (p.Pro267Leu) in PSEN1 (Presenilin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely 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 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
P267L (p.Pro267Leu) variant details
- p.Pro267Leu
- rs63750779
- ClinGen CA225119
- ClinVar RCV000084372
- ClinVar RCV001261442
- Likely pathogenic
- Alzheimer disease 3; Acne inversa, familial, 3; Frontotemporal dementia
- Missense
- Variant Prioritization Score for Impact Estimate 0.892
- REVEL 0.97
- CADD 26.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Alzheimer disease 3; Acne inversa, familial, 3; Frontotemporal d)
- EBI: Likely pathogenic (in AD3)
- UniProt: Likely pathogenic (in AD3)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- 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)