N135S (p.Asn135Ser) variant of PSEN1 (Presenilin-1)
N135S (p.Asn135Ser) 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 0.95 / 1. The record also includes published literature and structural context.
N135S (p.Asn135Ser) variant details
- p.Asn135Ser
- rs63751278
- ClinGen CA225013
- ClinVar RCV000084303
- ClinVar RCV000824341
- Pathogenic/Likely pathogenic
- Alzheimer disease 3; Acne inversa, familial, 3; Frontotemporal dementia
- Missense
- Variant Prioritization Score for Impact Estimate 0.948
- AlphaMissense 0.95
- MetaLR 0.99
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.85
- 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: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)
- Cited in: Alzheimer Disease Overview. (PMID 20301340)