Q223K (p.Gln223Lys) variant of PSEN1 (Presenilin-1)
Q223K (p.Gln223Lys) in PSEN1 (Presenilin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Pick disease; Frontotemporal dementia; Acne inversa, familial, 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
Q223K (p.Gln223Lys) variant details
- p.Gln223Lys
- rs1898776259
- ClinGen CA390299625
- ClinVar RCV001350081
- Ensembl rs1898776259
- Pathogenic
- Pick disease; Frontotemporal dementia; Acne inversa, familial, 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.96
- AlphaMissense 0.97
- MetaLR 0.99
- MetaSVM 0.97
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.94
- ClinVar: Pathogenic (Pick disease; Frontotemporal dementia; 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)