E8K (p.Glu8Lys) variant of ITK (Tyrosine-protein kinase ITK/TSK)
E8K (p.Glu8Lys) 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 0.66 / 1. The record also includes population frequency data and structural context.
E8K (p.Glu8Lys) variant details
- p.Glu8Lys
- rs868709834
- NCI-TCGA Cosmic COSV1014
- gnomAD rs868709834
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.657
- REVEL 0.57
- ESM-1b 1.00
- AlphaMissense 0.25
- CADD 23.10
- PolyPhen-2 0.01
- SIFT 0.16
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Structural context available