L286V (p.Leu286Val) variant of PSEN1 (Presenilin-1)
L286V (p.Leu286Val) in PSEN1 (Presenilin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Early-onset autosomal dominant Alzheimer disease; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
L286V (p.Leu286Val) variant details
- p.Leu286Val
- rs63751235
- ClinGen CA225141
- ClinVar RCV000019754
- ClinVar RCV000084387
- Pathogenic
- Early-onset autosomal dominant Alzheimer disease; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.962
- AlphaMissense 0.95
- MetaLR 0.99
- MetaSVM 0.97
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 1.00
- ClinVar: Pathogenic (Early-onset autosomal dominant Alzheimer disease; 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: Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease. (PMID 7596406)