I55V (p.Ile55Val) variant of ITK (Tyrosine-protein kinase ITK/TSK)
I55V (p.Ile55Val) in ITK (Tyrosine-protein kinase ITK/TSK) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
I55V (p.Ile55Val) variant details
- p.Ile55Val
- ExAC rs760049982
- TOPMed rs760049982
- gnomAD rs760049982
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- REVEL 0.49
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 18.30
- PolyPhen-2 0.04
- SIFT 0.37
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available