I416T (p.Ile416Thr) variant of PSEN1 (Presenilin-1)
I416T (p.Ile416Thr) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes published literature and structural context.
I416T (p.Ile416Thr) variant details
- p.Ile416Thr
- rs2140145565
- ClinGen CA390305937
- ClinVar RCV001810076
- ClinVar RCV005225421
- Pathogenic
- Alzheimer disease 3; Pick disease; Acne inversa, familial, 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.754
- AlphaMissense 0.41
- MetaLR 0.98
- MetaSVM 1.07
- PolyPhen-2 0.78
- SIFT 0.00
- EVE 0.41
- 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)