A50S (p.Ala50Ser) variant of JAK3 (Tyrosine-protein kinase JAK3)
A50S (p.Ala50Ser) 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 0.60 / 1. The record also includes population frequency data and structural context.
A50S (p.Ala50Ser) variant details
- p.Ala50Ser
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.596
- REVEL 0.47
- CADD 25.40
- PolyPhen-2 0.98
- SIFT 0.04
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available