L113P (p.Leu113Pro) variant of PSEN1 (Presenilin-1)
L113P (p.Leu113Pro) in PSEN1 (Presenilin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Frontotemporal dementia; Alzheimer disease 3; Acne inversa, familial, 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
L113P (p.Leu113Pro) variant details
- p.Leu113Pro
- rs63751399
- ClinGen CA224998
- ClinVar RCV000019775
- ClinVar RCV000020084
- Likely pathogenic
- Frontotemporal dementia; Alzheimer disease 3; Acne inversa, familial, 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.969
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.85
- ClinVar: Likely pathogenic (Frontotemporal dementia; Alzheimer disease 3; Acne inversa, fami)
- EBI: Pathogenic (in FTD1)
- UniProt: Pathogenic (in FTD1)
- Structural context available
- Cited in: Dementia with prominent frontotemporal features associated with L113P presenilin 1 mutation. (PMID 11094121)
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)