P117L (p.Pro117Leu) variant of PSEN1 (Presenilin-1)
P117L (p.Pro117Leu) 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 published literature and structural context.
P117L (p.Pro117Leu) variant details
- p.Pro117Leu
- rs63749805
- ClinGen CA225007
- ClinVar RCV000084298
- ClinVar RCV002272062
- Pathogenic/Likely pathogenic
- Alzheimer disease 3; Acne inversa, familial, 3; Frontotemporal dementia
- Missense
- Variant Prioritization Score for Impact Estimate 0.906
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.66
- ClinVar: Pathogenic/Likely pathogenic (Alzheimer disease 3; Acne inversa, familial, 3; Frontotemporal d)
- EBI: Pathogenic (in AD3)
- UniProt: Pathogenic (in AD3)
- Structural context available
- Cited in: A novel highly pathogenic Alzheimer presenilin-1 mutation in codon 117 (Pro117Ser): Comparison of clinical… (PMID 15004326)
- Cited in: Ligand binding and calcium influx induce distinct ectodomain/gamma-secretase-processing pathways of EphB2 receptor. (PMID 17428795)