R14S (p.Arg14Ser) variant of JAK3 (Tyrosine-protein kinase JAK3)
R14S (p.Arg14Ser) 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 0.49 / 1. The record also includes population frequency data and structural context.
R14S (p.Arg14Ser) variant details
- p.Arg14Ser
- NCI-TCGA Cosmic COSV7168
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- REVEL 0.36
- CADD 24.50
- PolyPhen-2 1.00
- SIFT 0.04
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available