I143V (p.Ile143Val) variant of PSEN1 (Presenilin-1)
I143V (p.Ile143Val) in PSEN1 (Presenilin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Alzheimer disease 3; Acne inversa, familial, 3; Pick disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
I143V (p.Ile143Val) variant details
- p.Ile143Val
- rs63750322
- ClinGen CA390304983
- ClinVar RCV003062642
- Ensembl rs63750322
- Likely pathogenic
- Alzheimer disease 3; Acne inversa, familial, 3; Pick disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.943
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 1.01
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.85
- ClinVar: Likely pathogenic (Alzheimer disease 3; Acne inversa, familial, 3; Pick disease)
- EBI: Likely pathogenic (in AD3)
- UniProt: Likely pathogenic (in AD3)
- 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)