L189M (p.Leu189Met) variant of APP (Amyloid-beta precursor protein)
L189M (p.Leu189Met) 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 0.28 / 1. The record also includes published literature and structural context.
L189M (p.Leu189Met) variant details
- p.Leu189Met
- rs1208508997
- ClinGen CA409862894
- ClinVar RCV002785909
- Uncertain significance
- Alzheimer disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- AlphaMissense 0.06
- MetaLR 0.02
- MetaSVM -1.01
- PolyPhen-2 0.00
- SIFT 0.58
- EVE 0.09
- ClinVar: Uncertain significance (Alzheimer disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)