I70M (p.Ile70Met) variant of ITK (Tyrosine-protein kinase ITK/TSK)
I70M (p.Ile70Met) in ITK (Tyrosine-protein kinase ITK/TSK) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
I70M (p.Ile70Met) variant details
- p.Ile70Met
- rs1200720668
- gnomAD 5-157208956-ACATC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.645
- CADD 27.70
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available