Q40H (p.Gln40His) variant of JAK2 (Tyrosine-protein kinase JAK2)
Q40H (p.Gln40His) in JAK2 (Tyrosine-protein kinase JAK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
Q40H (p.Gln40His) variant details
- p.Gln40His
- gnomAD rs1416185810
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.16
- AlphaMissense 0.14
- MetaLR 0.21
- MetaSVM -1.00
- CADD 14.60
- PolyPhen-2 0.00
- Most common in the South Asian population (allele frequency 7e-05)
- Structural context available