I55T (p.Ile55Thr) variant of ITK (Tyrosine-protein kinase ITK/TSK)
I55T (p.Ile55Thr) in ITK (Tyrosine-protein kinase ITK/TSK) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Lymphoproliferative syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
I55T (p.Ile55Thr) variant details
- p.Ile55Thr
- rs200593448
- ClinGen CA3532651
- ClinVar RCV001221645
- ExAC rs200593448
- Uncertain significance
- Lymphoproliferative syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.831
- REVEL 0.95
- ESM-1b 1.00
- AlphaMissense 0.76
- CADD 24.80
- PolyPhen-2 0.67
- SIFT 0.00
- ClinVar: Uncertain significance (Lymphoproliferative syndrome 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available