Y115C (p.Tyr115Cys) variant of PSEN1 (Presenilin-1)
Y115C (p.Tyr115Cys) 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 0.97 / 1. The record also includes published literature and structural context.
Y115C (p.Tyr115Cys) variant details
- p.Tyr115Cys
- rs63750450
- ClinGen CA225002
- ClinVar RCV000084295
- ClinVar RCV000640610
- Pathogenic/Likely pathogenic
- Alzheimer disease 3; Acne inversa, familial, 3; Frontotemporal dementia
- Missense
- Variant Prioritization Score for Impact Estimate 0.968
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 0.91
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.99
- 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: Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations. (PMID 11524469)
- Cited in: Early onset familial Alzheimer's disease: Mutation frequency in 31 families. (PMID 12552037)