C43S (p.Cys43Ser) variant of WAS (P42768)
C43S (p.Cys43Ser) in WAS (P42768) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
C43S (p.Cys43Ser) variant details
- p.Cys43Ser
- 1000Genomes rs782057219
- ExAC rs782057219
- TOPMed rs782057219
- gnomAD rs782057219
- Missense
- Variant Prioritization Score for Impact Estimate 0.732
- REVEL 0.83
- CADD 26.20
- Population evidence available
- Structural context available