F43L (p.Phe43Leu) variant of JAK3 (Tyrosine-protein kinase JAK3)
F43L (p.Phe43Leu) in JAK3 (Tyrosine-protein kinase JAK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
F43L (p.Phe43Leu) variant details
- p.Phe43Leu
- TOPMed rs2094246932
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.26
- CADD 22.60
- PolyPhen-2 0.20
- SIFT 0.06
- Population evidence available
- Structural context available