F86L (p.Phe86Leu) variant of PSEN1 (Presenilin-1)
F86L (p.Phe86Leu) in PSEN1 (Presenilin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Alzheimer disease 3; Pick disease; Acne inversa, familial, 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
F86L (p.Phe86Leu) variant details
- p.Phe86Leu
- rs2503063150
- ClinGen CA390303259
- ClinVar RCV003802480
- Uncertain significance
- Alzheimer disease 3; Pick disease; Acne inversa, familial, 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.709
- REVEL 0.82
- CADD 24.30
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Alzheimer disease 3; Pick disease; Acne inversa, familial, 3)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)
- Cited in: Alzheimer Disease Overview. (PMID 20301340)