Q40R (p.Gln40Arg) variant of JAK2 (Tyrosine-protein kinase JAK2)
Q40R (p.Gln40Arg) in JAK2 (Tyrosine-protein kinase JAK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
Q40R (p.Gln40Arg) variant details
- p.Gln40Arg
- gnomAD 9-5022106-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.23
- AlphaMissense 0.07
- MetaLR 0.21
- MetaSVM -0.82
- CADD 21.40
- PolyPhen-2 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available