P267T (p.Pro267Thr) variant of PSEN1 (Presenilin-1)
P267T (p.Pro267Thr) in PSEN1 (Presenilin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/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 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
P267T (p.Pro267Thr) variant details
- p.Pro267Thr
- rs63751229
- ClinGen CA390301958
- ClinVar RCV001281064
- ClinVar RCV005225347
- Pathogenic/Likely pathogenic
- Alzheimer disease 3; Acne inversa, familial, 3; Frontotemporal dementia
- Missense
- Variant Prioritization Score for Impact Estimate 0.911
- REVEL 0.97
- AlphaMissense 1.00
- MetaLR 1.00
- MetaSVM 0.89
- CADD 25.40
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Alzheimer disease 3; Acne inversa, familial, 3; Frontotemporal d)
- EBI: Pathogenic (in AD3)
- UniProt: Pathogenic (in AD3)
- Most common in the African/African-American population (allele frequency 2.8e-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)