N141I (p.Asn141Ile) variant of PSEN2 (Presenilin-2)
N141I (p.Asn141Ile) in PSEN2 (Presenilin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Alzheimer disease 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
N141I (p.Asn141Ile) variant details
- p.Asn141Ile
- rs63750215
- ClinGen CA224953
- ClinVar RCV000009393
- ClinVar RCV000084262
- Pathogenic
- not provided; Alzheimer disease 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.945
- AlphaMissense 0.98
- MetaLR 0.99
- MetaSVM 1.01
- PolyPhen-2 0.93
- SIFT 0.00
- EVE 0.85
- ClinVar: Pathogenic (not provided; Alzheimer disease 4)
- EBI: Pathogenic (in AD4)
- UniProt: Pathogenic (in AD4)
- Structural context available
- Cited in: APOE and other loci affect age-at-onset in Alzheimer's disease families with PS2 mutation. (PMID 15389756)
- Cited in: Mean age-of-onset of familial alzheimer disease caused by presenilin mutations correlates with both increased Abeta42… (PMID 16752394)