I65T (p.Ile65Thr) variant of ITK (Tyrosine-protein kinase ITK/TSK)
I65T (p.Ile65Thr) 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 0.59 / 1. The record also includes population frequency data and structural context.
I65T (p.Ile65Thr) variant details
- p.Ile65Thr
- rs1286793954
- ClinGen CA361947733
- ClinVar RCV001351801
- gnomAD rs1286793954
- Uncertain significance
- Lymphoproliferative syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.59
- REVEL 0.69
- ESM-1b 0.00
- AlphaMissense 0.13
- CADD 23.10
- PolyPhen-2 1.00
- SIFT 0.93
- ClinVar: Uncertain significance (Lymphoproliferative syndrome 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available