A29G (p.Ala29Gly) variant of JAK2 (Tyrosine-protein kinase JAK2)
A29G (p.Ala29Gly) in JAK2 (Tyrosine-protein kinase JAK2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
A29G (p.Ala29Gly) variant details
- p.Ala29Gly
- TOPMed rs1321992857
- gnomAD rs1321992857
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.186
- REVEL 0.09
- AlphaMissense 0.08
- MetaLR 0.27
- MetaSVM -0.90
- CADD 8.29
- PolyPhen-2 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available