E51D (p.Glu51Asp) variant of JAK3 (Tyrosine-protein kinase JAK3)
E51D (p.Glu51Asp) in JAK3 (Tyrosine-protein kinase JAK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
E51D (p.Glu51Asp) variant details
- p.Glu51Asp
- cosmic curated COSV71688
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- REVEL 0.55
- CADD 23.80
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available