G48E (p.Gly48Glu) variant of JAK2 (Tyrosine-protein kinase JAK2)
G48E (p.Gly48Glu) in JAK2 (Tyrosine-protein kinase JAK2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
G48E (p.Gly48Glu) variant details
- p.Gly48Glu
- rs143227399
- ClinGen CA4971490
- ClinVar RCV001794992
- ClinVar RCV001822010
- Conflicting interpretations
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- REVEL 0.02
- AlphaMissense 0.09
- MetaLR 0.13
- MetaSVM -1.04
- CADD 19.10
- PolyPhen-2 0.01
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:PJL population (allele frequency 0.042)
- Structural context available