G48R (p.Gly48Arg) variant of JAK2 (Tyrosine-protein kinase JAK2)
G48R (p.Gly48Arg) in JAK2 (Tyrosine-protein kinase JAK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
G48R (p.Gly48Arg) variant details
- p.Gly48Arg
- ExAC rs762570559
- gnomAD rs762570559
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- REVEL 0.21
- AlphaMissense 0.14
- MetaLR 0.24
- MetaSVM -0.64
- CADD 22.70
- PolyPhen-2 0.87
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available