D47G (p.Asp47Gly) variant of JAK3 (Tyrosine-protein kinase JAK3)
D47G (p.Asp47Gly) in JAK3 (Tyrosine-protein kinase JAK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
D47G (p.Asp47Gly) variant details
- p.Asp47Gly
- ExAC rs755294746
- TOPMed rs755294746
- gnomAD rs755294746
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.17
- CADD 22.70
- PolyPhen-2 0.01
- SIFT 0.08
- Most common in the Ashkenazi Jewish population (allele frequency 0.00058)
- Structural context available