C144W (p.Cys144Trp) variant of APP (Amyloid-beta precursor protein)
C144W (p.Cys144Trp) in APP (Amyloid-beta precursor protein) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
C144W (p.Cys144Trp) variant details
- p.Cys144Trp
- ExAC rs199520480
- TOPMed rs199520480
- gnomAD rs199520480
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.623
- REVEL 0.90
- CADD 23.50
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available