P79Q (p.Pro79Gln) variant of ITK (Tyrosine-protein kinase ITK/TSK)
P79Q (p.Pro79Gln) in ITK (Tyrosine-protein kinase ITK/TSK) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
P79Q (p.Pro79Gln) variant details
- p.Pro79Gln
- gnomAD 5-157208986-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.752
- REVEL 0.67
- ESM-1b 1.00
- AlphaMissense 0.98
- CADD 25.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available