L262F (p.Leu262Phe) variant of PSEN1 (Presenilin-1)
L262F (p.Leu262Phe) in PSEN1 (Presenilin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Alzheimer disease 3; Pick disease; Frontotemporal dementia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
L262F (p.Leu262Phe) variant details
- p.Leu262Phe
- rs63750248
- cosmic curated COSV10633
- ExAC rs63750248
- gnomAD rs63750248
- Pathogenic/Likely pathogenic
- Alzheimer disease 3; Pick disease; Frontotemporal dementia
- Missense
- Variant Prioritization Score for Impact Estimate 0.825
- REVEL 0.93
- CADD 24.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Alzheimer disease 3; Pick disease; Frontotemporal dementia)
- EBI: Pathogenic (in AD3)
- UniProt: Pathogenic (in AD3)
- Population evidence available
- Structural context available
- Cited in: Mean age-of-onset of familial alzheimer disease caused by presenilin mutations correlates with both increased Abeta42… (PMID 16752394)
- Cited in: Analysis of 138 pathogenic mutations in presenilin-1 on the in vitro production of Aβ42 and Aβ40 peptides by… (PMID 27930341)