P84A (p.Pro84Ala) variant of JAK3 (Tyrosine-protein kinase JAK3)
P84A (p.Pro84Ala) in JAK3 (Tyrosine-protein kinase JAK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
P84A (p.Pro84Ala) variant details
- p.Pro84Ala
- gnomAD rs1236673227
- Missense
- Variant Prioritization Score for Impact Estimate 0.743
- REVEL 0.73
- CADD 25.00
- PolyPhen-2 0.89
- SIFT 0.01
- Population evidence available
- Structural context available