E19K (p.Glu19Lys) variant of APP (Amyloid-beta precursor protein)
E19K (p.Glu19Lys) in APP (Amyloid-beta precursor protein) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
E19K (p.Glu19Lys) variant details
- p.Glu19Lys
- rs1375631745
- TOPMed rs1375631745
- gnomAD rs1375631745
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.66
- REVEL 0.62
- CADD 24.10
- PolyPhen-2 0.00
- SIFT 0.06
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available