R19K (p.Arg19Lys) variant of ITK (Tyrosine-protein kinase ITK/TSK)
R19K (p.Arg19Lys) in ITK (Tyrosine-protein kinase ITK/TSK) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in a metastatic melanoma sample. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
R19K (p.Arg19Lys) variant details
- p.Arg19Lys
- rs1753502279
- UniProt VAR 041710
- TOPMed rs1753502279
- gnomAD rs1753502279
- Uncertain significance
- in a metastatic melanoma sample
- Missense
- Variant Prioritization Score for Impact Estimate 0.502
- REVEL 0.44
- ESM-1b 0.00
- AlphaMissense 0.37
- CADD 21.00
- EBI: Variant of uncertain significance (in a metastatic melanoma sample)
- UniProt: Uncertain significance (in a metastatic melanoma sample)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Patterns of somatic mutation in human cancer genomes. (PMID 17344846)