G28E (p.Gly28Glu) variant of MAP2K2 (P36507)
G28E (p.Gly28Glu) in MAP2K2 (P36507) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; RASopathy. The record also includes structural context.
G28E (p.Gly28Glu) variant details
- p.Gly28Glu
- rs730880520
- ClinGen CA296176
- ClinVar RCV000158045
- ClinVar RCV001852681
- Uncertain significance
- not provided; RASopathy
- Missense
- ClinVar: Uncertain significance (not provided; RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available