Q40* (p.Gln40Ter) variant of JAK2 (Tyrosine-protein kinase JAK2)
Q40* (p.Gln40Ter) in JAK2 (Tyrosine-protein kinase JAK2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
Q40* (p.Gln40Ter) variant details
- p.Gln40Ter
- gnomAD rs1183427218
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.682
- CADD 36.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available