F31L (p.Phe31Leu) variant of ITK (Tyrosine-protein kinase ITK/TSK)
F31L (p.Phe31Leu) 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 0.96 / 1. The record also includes structural context.
F31L (p.Phe31Leu) variant details
- p.Phe31Leu
- rs1753503357
- ClinGen CA361966518
- ClinVar RCV001346786
- Ensembl rs1753503357
- Uncertain significance
- Lymphoproliferative syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.958
- ESM-1b 1.00
- AlphaMissense 0.99
- MutPred 0.84
- ClinVar: Uncertain significance (Lymphoproliferative syndrome 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available