E160K (p.Glu160Lys) variant of APP (Amyloid-beta precursor protein)
E160K (p.Glu160Lys) in APP (Amyloid-beta precursor protein) is a missense change. Clinical records from ClinVar and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Alzheimer disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
E160K (p.Glu160Lys) variant details
- p.Glu160Lys
- ESP rs375376201
- TOPMed rs375376201
- gnomAD rs375376201
- Conflicting interpretations
- Inborn genetic diseases; Alzheimer disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.549
- REVEL 0.48
- CADD 22.10
- PolyPhen-2 0.42
- SIFT 0.74
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Alzheimer disease)
- UniProt: Conflicting interpretations
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available