E12Q (p.Glu12Gln) variant of JAK2 (Tyrosine-protein kinase JAK2)
E12Q (p.Glu12Gln) in JAK2 (Tyrosine-protein kinase JAK2) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
E12Q (p.Glu12Gln) variant details
- p.Glu12Gln
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- REVEL 0.35
- AlphaMissense 0.12
- MetaLR 0.26
- MetaSVM -0.54
- CADD 22.00
- PolyPhen-2 0.76
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available