K13R (p.Lys13Arg) variant of ITK (Tyrosine-protein kinase ITK/TSK)
K13R (p.Lys13Arg) in ITK (Tyrosine-protein kinase ITK/TSK) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
K13R (p.Lys13Arg) variant details
- p.Lys13Arg
- TOPMed rs1753501943
- Missense
- Variant Prioritization Score for Impact Estimate 0.82
- REVEL 0.91
- ESM-1b 1.00
- AlphaMissense 0.82
- CADD 26.90
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available