P79L (p.Pro79Leu) variant of ITK (Tyrosine-protein kinase ITK/TSK)
P79L (p.Pro79Leu) in ITK (Tyrosine-protein kinase ITK/TSK) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
P79L (p.Pro79Leu) variant details
- p.Pro79Leu
- ExAC rs770772353
- TOPMed rs770772353
- gnomAD rs770772353
- Missense
- Variant Prioritization Score for Impact Estimate 0.715
- REVEL 0.59
- ESM-1b 1.00
- AlphaMissense 0.91
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available