I5I (p.Ile5Ile) variant of ITK (Tyrosine-protein kinase ITK/TSK)
I5I (p.Ile5Ile) in ITK (Tyrosine-protein kinase ITK/TSK) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
I5I (p.Ile5Ile) variant details
- p.Ile5Ile
- rs750096142
- gnomAD 5-157180992-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.371
- CADD 12.10
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available