Q34H (p.Gln34His) variant of JAK2 (Tyrosine-protein kinase JAK2)
Q34H (p.Gln34His) in JAK2 (Tyrosine-protein kinase JAK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
Q34H (p.Gln34His) variant details
- p.Gln34His
- gnomAD 9-5022089-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.30
- AlphaMissense 0.11
- MetaLR 0.25
- MetaSVM -0.65
- CADD 12.00
- PolyPhen-2 0.78
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Literature evidence available