C410Y (p.Cys410Tyr) variant of PSEN1 (Presenilin-1)
C410Y (p.Cys410Tyr) in PSEN1 (Presenilin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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.
C410Y (p.Cys410Tyr) variant details
- p.Cys410Tyr
- rs661
- ClinGen CA225174
- ClinVar RCV000019755
- ClinVar RCV000084407
- Pathogenic
- Frontotemporal dementia; Alzheimer disease 3; Acne inversa, familial, 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.972
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 0.97
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 1.00
- ClinVar: Pathogenic (Frontotemporal dementia; Alzheimer disease 3; Acne inversa, fami)
- EBI: Pathogenic (in AD3)
- UniProt: Pathogenic (in AD3)
- Structural context available
- Cited in: Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrum. (PMID 10441572)
- Cited in: Trans-dominant negative effects of pathogenic PSEN1 mutations on γ-secretase activity and Aβ production. (PMID 23843529)