T56S (p.Thr56Ser) variant of JAK2 (Tyrosine-protein kinase JAK2)
T56S (p.Thr56Ser) in JAK2 (Tyrosine-protein kinase JAK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
T56S (p.Thr56Ser) variant details
- p.Thr56Ser
- gnomAD 9-5022154-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.191
- REVEL 0.04
- AlphaMissense 0.08
- MetaLR 0.04
- MetaSVM -1.08
- CADD 0.13
- PolyPhen-2 0.00
- Population evidence available
- Structural context available
- Literature evidence available