Q21H (p.Gln21His) variant of JAK2 (Tyrosine-protein kinase JAK2)
Q21H (p.Gln21His) in JAK2 (Tyrosine-protein kinase JAK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
Q21H (p.Gln21His) variant details
- p.Gln21His
- TOPMed rs1319914611
- gnomAD rs1319914611
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- REVEL 0.30
- AlphaMissense 0.16
- MetaLR 0.31
- MetaSVM -0.51
- CADD 16.20
- PolyPhen-2 0.84
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available