F80V (p.Phe80Val) variant of ITK (Tyrosine-protein kinase ITK/TSK)
F80V (p.Phe80Val) in ITK (Tyrosine-protein kinase ITK/TSK) is a protein-truncating 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.
F80V (p.Phe80Val) variant details
- p.Phe80Val
- gnomAD 5-157208983-A-AC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.655
- CADD 29.20
- Population evidence available
- Structural context available
- Literature evidence available