P12S (p.Pro12Ser) variant of ABL2 (Tyrosine-protein kinase ABL2)
P12S (p.Pro12Ser) in ABL2 (Tyrosine-protein kinase ABL2) is a missense change. Clinical records from ClinVar, EBI, 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 0.42 / 1. The record also includes population frequency data.
P12S (p.Pro12Ser) variant details
- p.Pro12Ser
- rs866229451
- ClinGen CA33898919
- ClinVar RCV004154725
- TOPMed rs866229451
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- REVEL 0.27
- CADD 22.90
- PolyPhen-2 0.97
- SIFT 0.78
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance (in dbSNP:rs1318056)
- UniProt: Uncertain significance (in dbSNP:rs1318056)
- Population evidence available