L262V (p.Leu262Val) variant of PSEN1 (Presenilin-1)
L262V (p.Leu262Val) 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 Pick disease; Acne inversa, familial, 3; Frontotemporal dementia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
L262V (p.Leu262Val) variant details
- p.Leu262Val
- UniProt VAR 070025
- Pathogenic/Likely pathogenic
- Pick disease; Acne inversa, familial, 3; Frontotemporal dementia
- Missense
- Variant Prioritization Score for Impact Estimate 0.704
- REVEL 0.94
- CADD 24.50
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Pick disease; Acne inversa, familial, 3; Frontotemporal dementia)
- EBI: Pathogenic (in AD3)
- UniProt: Pathogenic (in AD3)
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available
- Cited in: Identification of PSEN1 and PSEN2 gene mutations and variants in Turkish dementia patients. (PMID 22503161)
- Cited in: A presenilin 1 mutation (Ser169Pro) associated with early-onset AD and myoclonic seizures. (PMID 10025789)