K48Q (p.Lys48Gln) variant of ITK (Tyrosine-protein kinase ITK/TSK)
K48Q (p.Lys48Gln) in ITK (Tyrosine-protein kinase ITK/TSK) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
K48Q (p.Lys48Gln) variant details
- p.Lys48Gln
- gnomAD 5-157208892-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.659
- REVEL 0.75
- ESM-1b 0.34
- AlphaMissense 0.19
- CADD 25.90
- PolyPhen-2 0.96
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available