K12T (p.Lys12Thr) variant of ABL1 (Tyrosine-protein kinase ABL1)
K12T (p.Lys12Thr) in ABL1 (Tyrosine-protein kinase ABL1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
K12T (p.Lys12Thr) variant details
- p.Lys12Thr
- TOPMed rs1367430242
- gnomAD rs1367430242
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- REVEL 0.45
- MetaLR 0.32
- MetaSVM -0.40
- CADD 22.00
- PolyPhen-2 0.98
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available