G13E (p.Gly13Glu) variant of JAK2 (Tyrosine-protein kinase JAK2)
G13E (p.Gly13Glu) 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 0.25 / 1. The record also includes population frequency data and structural context.
G13E (p.Gly13Glu) variant details
- p.Gly13Glu
- NCI-TCGA Cosmic COSV6766
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.21
- AlphaMissense 0.09
- MetaLR 0.22
- MetaSVM -0.94
- CADD 12.50
- PolyPhen-2 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available