L271V (p.Leu271Val) variant of PSEN1 (Presenilin-1)
L271V (p.Leu271Val) in PSEN1 (Presenilin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Frontotemporal dementia; Alzheimer disease 3; Acne inversa, familial, 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
L271V (p.Leu271Val) variant details
- p.Leu271Val
- rs63750886
- ClinGen CA127840
- ClinVar RCV000019778
- ClinVar RCV000084375
- Pathogenic
- Frontotemporal dementia; Alzheimer disease 3; Acne inversa, familial, 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.961
- AlphaMissense 0.97
- MetaLR 0.99
- MetaSVM 1.05
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.92
- ClinVar: Pathogenic (Frontotemporal dementia; Alzheimer disease 3; Acne inversa, fami)
- EBI: Pathogenic (in AD3)
- UniProt: Pathogenic (in AD3)
- Structural context available
- Cited in: Presenilin-1 mutation L271V results in altered exon 8 splicing and Alzheimer's disease with non-cored plaques and no… (PMID 12493737)
- Cited in: Analysis of 138 pathogenic mutations in presenilin-1 on the in vitro production of Aβ42 and Aβ40 peptides by… (PMID 27930341)