Q40Q (p.Gln40Gln) variant of JAK2 (Tyrosine-protein kinase JAK2)
Q40Q (p.Gln40Gln) in JAK2 (Tyrosine-protein kinase JAK2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
Q40Q (p.Gln40Gln) variant details
- p.Gln40Gln
- gnomAD 9-5022107-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.289
- CADD 5.90
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available