D47Y (p.Asp47Tyr) variant of JAK3 (Tyrosine-protein kinase JAK3)
D47Y (p.Asp47Tyr) 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 0.38 / 1. The record also includes population frequency data and structural context.
D47Y (p.Asp47Tyr) variant details
- p.Asp47Tyr
- NCI-TCGA Cosmic COSV7168
- cosmic curated COSV71686
- Ensembl rs2094246893
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.19
- CADD 23.70
- PolyPhen-2 0.26
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available