Q34P (p.Gln34Pro) variant of JAK2 (Tyrosine-protein kinase JAK2)
Q34P (p.Gln34Pro) in JAK2 (Tyrosine-protein kinase JAK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
Q34P (p.Gln34Pro) variant details
- p.Gln34Pro
- gnomAD 9-5022088-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.22
- AlphaMissense 0.06
- MetaLR 0.22
- MetaSVM -0.90
- CADD 19.80
- PolyPhen-2 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available