L5F (p.Leu5Phe) variant of APP (Amyloid-beta precursor protein)
L5F (p.Leu5Phe) in APP (Amyloid-beta precursor protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Alzheimer disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
L5F (p.Leu5Phe) variant details
- p.Leu5Phe
- rs2517491839
- ClinGen CA410167266
- ClinVar RCV003881635
- Uncertain significance
- Alzheimer disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.16
- CADD 20.70
- PolyPhen-2 0.00
- SIFT 0.29
- ClinVar: Uncertain significance (Alzheimer disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Alzheimer Disease Overview. (PMID 20301340)
- Cited in: EFNS guidelines for the diagnosis and management of Alzheimer's disease. (PMID 20831773)