K52R (p.Lys52Arg) variant of ITK (Tyrosine-protein kinase ITK/TSK)
K52R (p.Lys52Arg) in ITK (Tyrosine-protein kinase ITK/TSK) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
K52R (p.Lys52Arg) variant details
- p.Lys52Arg
- gnomAD 5-157208905-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- REVEL 0.38
- ESM-1b 0.79
- AlphaMissense 0.13
- CADD 22.80
- PolyPhen-2 0.17
- SIFT 0.19
- Population evidence available
- Structural context available
- Literature evidence available