N47S (p.Asn47Ser) variant of ABL2 (Tyrosine-protein kinase ABL2)
N47S (p.Asn47Ser) in ABL2 (Tyrosine-protein kinase ABL2) 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 0.32 / 1. The record also includes population frequency data.
N47S (p.Asn47Ser) variant details
- p.Asn47Ser
- rs544043509
- 1000Genomes rs544043509
- ExAC rs544043509
- TOPMed rs544043509
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.20
- CADD 23.60
- PolyPhen-2 0.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available