P3L (p.Pro3Leu) variant of JAK3 (Tyrosine-protein kinase JAK3)
P3L (p.Pro3Leu) in JAK3 (Tyrosine-protein kinase JAK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
P3L (p.Pro3Leu) variant details
- p.Pro3Leu
- ExAC rs766883331
- gnomAD rs766883331
- Missense
- Variant Prioritization Score for Impact Estimate 0.556
- REVEL 0.39
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available