P73T (p.Pro73Thr) variant of ITK (Tyrosine-protein kinase ITK/TSK)
P73T (p.Pro73Thr) 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 and structural context.
P73T (p.Pro73Thr) variant details
- p.Pro73Thr
- TOPMed rs1272674224
- gnomAD rs1272674224
- Missense
- Variant Prioritization Score for Impact Estimate 0.655
- REVEL 0.52
- ESM-1b 1.00
- AlphaMissense 0.50
- CADD 24.30
- PolyPhen-2 0.95
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available