I60V (p.Ile60Val) variant of ITK (Tyrosine-protein kinase ITK/TSK)
I60V (p.Ile60Val) in ITK (Tyrosine-protein kinase ITK/TSK) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
I60V (p.Ile60Val) variant details
- p.Ile60Val
- TOPMed rs1432709261
- gnomAD rs1432709261
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- REVEL 0.40
- ESM-1b 0.39
- AlphaMissense 0.15
- CADD 23.50
- PolyPhen-2 0.99
- SIFT 0.09
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available