E145K (p.Glu145Lys) variant of APP (Amyloid-beta precursor protein)
E145K (p.Glu145Lys) 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 not specified; Alzheimer disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
E145K (p.Glu145Lys) variant details
- p.Glu145Lys
- rs201573490
- ClinGen CA319558398
- NCI-TCGA Cosmic COSV6099
- cosmic curated COSV60994
- Uncertain significance
- not specified; Alzheimer disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.816
- REVEL 0.84
- CADD 25.40
- PolyPhen-2 0.97
- SIFT 0.08
- ClinVar: Uncertain significance (not specified; Alzheimer disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- 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)