R49C (p.Arg49Cys) variant of ITK (Tyrosine-protein kinase ITK/TSK)
R49C (p.Arg49Cys) 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 Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
R49C (p.Arg49Cys) variant details
- p.Arg49Cys
- rs376961787
- ESP rs376961787
- TOPMed rs376961787
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.642
- REVEL 0.68
- ESM-1b 0.00
- AlphaMissense 0.23
- CADD 27.20
- PolyPhen-2 0.88
- SIFT 0.02
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available