R269G (p.Arg269Gly) variant of PSEN1 (Presenilin-1)
R269G (p.Arg269Gly) in PSEN1 (Presenilin-1) is a missense change. The available record places it in the context of Acne inversa, familial, 3; Frontotemporal dementia; Alzheimer disease 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
R269G (p.Arg269Gly) variant details
- p.Arg269Gly
- rs63751019
- ClinGen CA225121
- ClinVar RCV000084373
- UniProt VAR 006447
- not provided
- Acne inversa, familial, 3; Frontotemporal dementia; Alzheimer disease 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.975
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.99
- ClinVar: not provided (not provided)
- EBI: Pathogenic (in AD3)
- UniProt: Pathogenic (in AD3)
- Structural context available
- Cited in: Analysis of 138 pathogenic mutations in presenilin-1 on the in vitro production of Aβ42 and Aβ40 peptides by… (PMID 27930341)
- Cited in: A presenilin 1 mutation (Ser169Pro) associated with early-onset AD and myoclonic seizures. (PMID 10025789)