Q10E (p.Gln10Glu) variant of ITK (Tyrosine-protein kinase ITK/TSK)
Q10E (p.Gln10Glu) in ITK (Tyrosine-protein kinase ITK/TSK) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
Q10E (p.Gln10Glu) variant details
- p.Gln10Glu
- ExAC rs758061743
- TOPMed rs758061743
- gnomAD rs758061743
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 18.30
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available