R335W (p.Arg335Trp) variant of ITK (Tyrosine-protein kinase ITK/TSK)
R335W (p.Arg335Trp) in ITK (Tyrosine-protein kinase ITK/TSK) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Lymphoproliferative syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
R335W (p.Arg335Trp) variant details
- p.Arg335Trp
- rs121908191
- ClinGen CA122669
- ClinVar RCV000013578
- UniProt VAR 063424
- Likely pathogenic
- Lymphoproliferative syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.556
- REVEL 0.46
- ESM-1b 1.00
- AlphaMissense 0.90
- CADD 27.30
- PolyPhen-2 0.56
- SIFT 0.00
- ClinVar: Likely pathogenic (Lymphoproliferative syndrome 1)
- EBI: Pathogenic (in LPFS1)
- UniProt: Pathogenic (in LPFS1)
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Girls homozygous for an IL-2-inducible T cell kinase mutation that leads to protein deficiency develop fatal… (PMID 19425169)
- Cited in: Loss-of-function mutations within the IL-2 inducible kinase ITK in patients with EBV-associated lymphoproliferative… (PMID 22289921)