Q34R (p.Gln34Arg) variant of JAK2 (Tyrosine-protein kinase JAK2)
Q34R (p.Gln34Arg) in JAK2 (Tyrosine-protein kinase JAK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
Q34R (p.Gln34Arg) variant details
- p.Gln34Arg
- gnomAD rs1194311101
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.23
- AlphaMissense 0.08
- MetaLR 0.23
- MetaSVM -0.88
- CADD 18.10
- PolyPhen-2 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available