R59Q (p.Arg59Gln) variant of ITK (Tyrosine-protein kinase ITK/TSK)
R59Q (p.Arg59Gln) 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 0.47 / 1. The record also includes population frequency data and structural context.
R59Q (p.Arg59Gln) variant details
- p.Arg59Gln
- rs757740059
- ClinGen CA3532653
- NCI-TCGA Cosmic COSV7006
- ClinVar RCV001368433
- Uncertain significance
- Lymphoproliferative syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- REVEL 0.36
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 26.70
- PolyPhen-2 0.53
- SIFT 0.02
- ClinVar: Uncertain significance (Lymphoproliferative syndrome 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available