A38S (p.Ala38Ser) variant of ABL2 (Tyrosine-protein kinase ABL2)
A38S (p.Ala38Ser) in ABL2 (Tyrosine-protein kinase ABL2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data.
A38S (p.Ala38Ser) variant details
- p.Ala38Ser
- ExAC rs778308312
- TOPMed rs778308312
- gnomAD rs778308312
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.12
- CADD 18.20
- PolyPhen-2 0.01
- SIFT 0.56
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Population evidence available