D52G (p.Asp52Gly) variant of JAK3 (Tyrosine-protein kinase JAK3)
D52G (p.Asp52Gly) in JAK3 (Tyrosine-protein kinase JAK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
D52G (p.Asp52Gly) variant details
- p.Asp52Gly
- TOPMed rs943912652
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- REVEL 0.30
- CADD 24.60
- PolyPhen-2 0.10
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available