D52E (p.Asp52Glu) variant of JAK3 (Tyrosine-protein kinase JAK3)
D52E (p.Asp52Glu) in JAK3 (Tyrosine-protein kinase JAK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
D52E (p.Asp52Glu) variant details
- p.Asp52Glu
- cosmic curated COSV71687
- Missense
- Variant Prioritization Score for Impact Estimate 0.13
- REVEL 0.16
- CADD 1.19
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available