F4L (p.Phe4Leu) variant of ITK (Tyrosine-protein kinase ITK/TSK)
F4L (p.Phe4Leu) 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 0.21 / 1. The record also includes population frequency data and structural context.
F4L (p.Phe4Leu) variant details
- p.Phe4Leu
- rs1393178996
- ClinGen CA361966120
- ClinVar RCV001905858
- gnomAD rs1393178996
- Uncertain significance
- Lymphoproliferative syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.213
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.25
- CADD 22.10
- PolyPhen-2 0.00
- SIFT 0.26
- ClinVar: Uncertain significance (Lymphoproliferative syndrome 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available