S212Y (p.Ser212Tyr) variant of PSEN1 (Presenilin-1)
S212Y (p.Ser212Tyr) 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; Pick disease; Frontotemporal dementia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
S212Y (p.Ser212Tyr) variant details
- p.Ser212Tyr
- rs1555355250
- ClinGen CA390299466
- ClinVar RCV000712873
- ClinVar RCV001055042
- Pathogenic/Likely pathogenic
- Alzheimer disease 3; Pick disease; Frontotemporal dementia
- Missense
- Variant Prioritization Score for Impact Estimate 0.88
- AlphaMissense 0.90
- MetaLR 0.95
- MetaSVM 1.13
- PolyPhen-2 0.20
- SIFT 0.00
- EVE 0.95
- ClinVar: Pathogenic/Likely pathogenic (Alzheimer disease 3; Pick disease; Frontotemporal dementia)
- 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)