P58Q (p.Pro58Gln) variant of JAK2 (Tyrosine-protein kinase JAK2)
P58Q (p.Pro58Gln) in JAK2 (Tyrosine-protein kinase JAK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
P58Q (p.Pro58Gln) variant details
- p.Pro58Gln
- Ensembl rs2130076287
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.16
- AlphaMissense 0.10
- MetaLR 0.14
- MetaSVM -0.89
- CADD 15.20
- PolyPhen-2 0.81
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available