K27R (p.Lys27Arg) variant of ITK (Tyrosine-protein kinase ITK/TSK)
K27R (p.Lys27Arg) in ITK (Tyrosine-protein kinase ITK/TSK) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
K27R (p.Lys27Arg) variant details
- p.Lys27Arg
- gnomAD 5-157181057-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.725
- REVEL 0.84
- ESM-1b 1.00
- AlphaMissense 0.22
- CADD 26.00
- PolyPhen-2 0.60
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available