P12T (p.Pro12Thr) variant of ABL2 (Tyrosine-protein kinase ABL2)
P12T (p.Pro12Thr) in ABL2 (Tyrosine-protein kinase ABL2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data.
P12T (p.Pro12Thr) variant details
- p.Pro12Thr
- TOPMed rs866229451
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.28
- CADD 22.80
- PolyPhen-2 0.98
- SIFT 0.79
- EBI: Variant of uncertain significance (in dbSNP:rs1318056)
- UniProt: Uncertain significance (in dbSNP:rs1318056)
- Population evidence available