T50R (p.Thr50Arg) variant of ITK (Tyrosine-protein kinase ITK/TSK)
T50R (p.Thr50Arg) in ITK (Tyrosine-protein kinase ITK/TSK) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
T50R (p.Thr50Arg) variant details
- p.Thr50Arg
- ExAC rs774040719
- TOPMed rs774040719
- gnomAD rs774040719
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.36
- ESM-1b 0.00
- AlphaMissense 0.28
- CADD 22.50
- PolyPhen-2 0.63
- SIFT 0.40
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available