T56N (p.Thr56Asn) variant of JAK2 (Tyrosine-protein kinase JAK2)
T56N (p.Thr56Asn) 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.
T56N (p.Thr56Asn) variant details
- p.Thr56Asn
- gnomAD 9-5022154-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.192
- REVEL 0.03
- AlphaMissense 0.08
- MetaLR 0.09
- MetaSVM -1.09
- CADD 1.42
- PolyPhen-2 0.03
- Population evidence available
- Structural context available
- Literature evidence available