Q40P (p.Gln40Pro) variant of JAK2 (Tyrosine-protein kinase JAK2)
Q40P (p.Gln40Pro) in JAK2 (Tyrosine-protein kinase JAK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
Q40P (p.Gln40Pro) variant details
- p.Gln40Pro
- gnomAD 9-5022106-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.533
- REVEL 0.52
- AlphaMissense 0.58
- MetaLR 0.37
- MetaSVM -0.46
- CADD 23.40
- PolyPhen-2 0.34
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available