R44G (p.Arg44Gly) variant of ITK (Tyrosine-protein kinase ITK/TSK)
R44G (p.Arg44Gly) in ITK (Tyrosine-protein kinase ITK/TSK) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
R44G (p.Arg44Gly) variant details
- p.Arg44Gly
- rs774659403
- NCI-TCGA Cosmic COSV7006
- ExAC rs774659403
- gnomAD rs774659403
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.543
- REVEL 0.50
- ESM-1b 0.00
- AlphaMissense 0.74
- CADD 22.80
- PolyPhen-2 0.02
- SIFT 0.32
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available