H45L (p.His45Leu) variant of ITK (Tyrosine-protein kinase ITK/TSK)
H45L (p.His45Leu) 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 0.24 / 1. The record also includes population frequency data and structural context.
H45L (p.His45Leu) variant details
- p.His45Leu
- rs1753504528
- ClinGen CA361966742
- ClinVar RCV001050342
- Ensembl rs1753504528
- Uncertain significance
- Lymphoproliferative syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 22.50
- PolyPhen-2 0.03
- SIFT 0.17
- ClinVar: Uncertain significance (Lymphoproliferative syndrome 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available