I70I (p.Ile70Ile) variant of ITK (Tyrosine-protein kinase ITK/TSK)
I70I (p.Ile70Ile) in ITK (Tyrosine-protein kinase ITK/TSK) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
I70I (p.Ile70Ile) variant details
- p.Ile70Ile
- rs752571215
- gnomAD 5-157208960-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.136
- CADD 7.77
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available