Y256N (p.Tyr256Asn) variant of PSEN1 (Presenilin-1)
Y256N (p.Tyr256Asn) in PSEN1 (Presenilin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Alzheimer disease 3; Pick disease; Acne inversa, familial, 3. The record also includes published literature and structural context.
Y256N (p.Tyr256Asn) variant details
- p.Tyr256Asn
- rs2502941276
- ClinGen CA390299975
- ClinVar RCV003112298
- Pathogenic
- Alzheimer disease 3; Pick disease; Acne inversa, familial, 3
- Missense
- ClinVar: Pathogenic (Alzheimer disease 3; Pick disease; Acne inversa, familial, 3)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)