I12M (p.Ile12Met) variant of ITK (Tyrosine-protein kinase ITK/TSK)
I12M (p.Ile12Met) in ITK (Tyrosine-protein kinase ITK/TSK) 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 0.67 / 1. The record also includes population frequency data and structural context.
I12M (p.Ile12Met) variant details
- p.Ile12Met
- rs751083005
- ExAC rs751083005
- gnomAD rs751083005
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.668
- REVEL 0.74
- ESM-1b 0.56
- AlphaMissense 0.25
- CADD 24.00
- PolyPhen-2 0.94
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available