K18N (p.Lys18Asn) variant of ITK (Tyrosine-protein kinase ITK/TSK)
K18N (p.Lys18Asn) in ITK (Tyrosine-protein kinase ITK/TSK) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
K18N (p.Lys18Asn) variant details
- p.Lys18Asn
- gnomAD 5-157181031-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.673
- REVEL 0.80
- ESM-1b 1.00
- AlphaMissense 1.00
- CADD 25.10
- PolyPhen-2 0.71
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available