V28F (p.Val28Phe) variant of ITK (Tyrosine-protein kinase ITK/TSK)
V28F (p.Val28Phe) 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 0.61 / 1. The record also includes population frequency data and structural context.
V28F (p.Val28Phe) variant details
- p.Val28Phe
- rs1580869283
- ClinGen CA361966473
- ClinVar RCV000791571
- TOPMed rs1580869283
- Uncertain significance
- Lymphoproliferative syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.613
- REVEL 0.70
- ESM-1b 0.00
- AlphaMissense 0.19
- CADD 25.70
- PolyPhen-2 0.80
- SIFT 0.00
- ClinVar: Uncertain significance (Lymphoproliferative syndrome 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available