I5T (p.Ile5Thr) variant of ITK (Tyrosine-protein kinase ITK/TSK)
I5T (p.Ile5Thr) in ITK (Tyrosine-protein kinase ITK/TSK) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
I5T (p.Ile5Thr) variant details
- p.Ile5Thr
- gnomAD rs1325310385
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.34
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 22.50
- PolyPhen-2 0.14
- SIFT 0.41
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available