K47E (p.Lys47Glu) variant of ITK (Tyrosine-protein kinase ITK/TSK)
K47E (p.Lys47Glu) 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.
K47E (p.Lys47Glu) variant details
- p.Lys47Glu
- gnomAD 5-157208889-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.662
- REVEL 0.69
- ESM-1b 0.54
- AlphaMissense 0.67
- CADD 25.10
- PolyPhen-2 0.89
- SIFT 0.14
- Population evidence available
- Structural context available
- Literature evidence available