D69N (p.Asp69Asn) variant of ITK (Tyrosine-protein kinase ITK/TSK)
D69N (p.Asp69Asn) 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.
D69N (p.Asp69Asn) variant details
- p.Asp69Asn
- gnomAD 5-157208955-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.656
- REVEL 0.58
- ESM-1b 0.76
- AlphaMissense 0.18
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available