F30C (p.Phe30Cys) variant of ITK (Tyrosine-protein kinase ITK/TSK)
F30C (p.Phe30Cys) in ITK (Tyrosine-protein kinase ITK/TSK) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
F30C (p.Phe30Cys) variant details
- p.Phe30Cys
- TOPMed rs1753503176
- Missense
- Variant Prioritization Score for Impact Estimate 0.628
- REVEL 0.75
- ESM-1b 0.00
- AlphaMissense 0.16
- CADD 27.50
- PolyPhen-2 0.94
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 8.1e-06)
- Structural context available