P264L (p.Pro264Leu) variant of PSEN1 (Presenilin-1)
P264L (p.Pro264Leu) 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; Pick disease; 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.
P264L (p.Pro264Leu) variant details
- p.Pro264Leu
- rs63750301
- ClinGen CA225117
- ClinVar RCV000084370
- ClinVar RCV000415376
- Pathogenic/Likely pathogenic
- Alzheimer disease 3; Pick disease; Frontotemporal dementia
- Missense
- Variant Prioritization Score for Impact Estimate 0.889
- REVEL 0.96
- CADD 26.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Alzheimer disease 3; Pick disease; Frontotemporal dementia)
- EBI: Pathogenic (in AD3)
- UniProt: Pathogenic (in AD3)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrum. (PMID 10441572)
- Cited in: Ligand binding and calcium influx induce distinct ectodomain/gamma-secretase-processing pathways of EphB2 receptor. (PMID 17428795)