F237L (p.Phe237Leu) variant of PSEN1 (Presenilin-1)
F237L (p.Phe237Leu) in PSEN1 (Presenilin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Visual hallucination; Dementia; Auditory hallucination. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes published literature and structural context.
F237L (p.Phe237Leu) variant details
- p.Phe237Leu
- rs63750858
- ClinGen CA225100
- ClinVar RCV000084359
- ClinVar RCV002243711
- Likely pathogenic
- Visual hallucination; Dementia; Auditory hallucination
- Missense
- Variant Prioritization Score for Impact Estimate 0.787
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.10
- PolyPhen-2 0.67
- SIFT 0.12
- EVE 0.27
- ClinVar: Likely pathogenic (Visual hallucination; Dementia; Auditory hallucination)
- EBI: Likely pathogenic (in AD3)
- UniProt: Likely pathogenic (in AD3)
- Structural context available
- Cited in: Early onset familial Alzheimer's disease: Mutation frequency in 31 families. (PMID 12552037)
- Cited in: A presenilin 1 mutation (Ser169Pro) associated with early-onset AD and myoclonic seizures. (PMID 10025789)