K178M (p.Lys178Met) variant of APP (Amyloid-beta precursor protein)
K178M (p.Lys178Met) in APP (Amyloid-beta precursor protein) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
K178M (p.Lys178Met) variant details
- p.Lys178Met
- ExAC rs758637653
- TOPMed rs758637653
- gnomAD rs758637653
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.717
- REVEL 0.75
- CADD 29.10
- PolyPhen-2 0.87
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available