R14C (p.Arg14Cys) variant of JAK3 (Tyrosine-protein kinase JAK3)
R14C (p.Arg14Cys) in JAK3 (Tyrosine-protein kinase JAK3) 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 0.47 / 1. The record also includes population frequency data and structural context.
R14C (p.Arg14Cys) variant details
- p.Arg14Cys
- rs896064879
- NCI-TCGA Cosmic COSV7168
- cosmic curated COSV71688
- TOPMed rs896064879
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- REVEL 0.33
- CADD 24.20
- PolyPhen-2 1.00
- SIFT 0.08
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available