D24N (p.Asp24Asn) variant of JAK2 (Tyrosine-protein kinase JAK2)
D24N (p.Asp24Asn) in JAK2 (Tyrosine-protein kinase JAK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
D24N (p.Asp24Asn) variant details
- p.Asp24Asn
- gnomAD 9-5022057-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.26
- AlphaMissense 0.08
- MetaLR 0.41
- MetaSVM -0.46
- CADD 23.50
- PolyPhen-2 0.09
- Population evidence available
- Structural context available
- Literature evidence available