V261I (p.Val261Ile) variant of PSEN1 (Presenilin-1)
V261I (p.Val261Ile) in PSEN1 (Presenilin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Frontotemporal dementia; Pick disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
V261I (p.Val261Ile) variant details
- p.Val261Ile
- rs63750964
- ClinGen CA390301925
- ClinVar RCV000984884
- ClinVar RCV005225170
- Pathogenic
- not provided; Frontotemporal dementia; Pick disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.889
- REVEL 0.91
- AlphaMissense 0.92
- MetaLR 0.99
- MetaSVM 0.92
- CADD 28.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic (not provided; Frontotemporal dementia; Pick disease)
- EBI: Pathogenic (in AD3)
- UniProt: Pathogenic (in AD3)
- Population evidence available
- 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)