D44E (p.Asp44Glu) variant of RAF1 (P04049)
D44E (p.Asp44Glu) in RAF1 (P04049) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of RASopathy. The record also includes experimental measurements and structural context.
D44E (p.Asp44Glu) variant details
- p.Asp44Glu
- rs2470447219
- ClinGen CA351485009
- ClinVar RCV002829368
- Uncertain significance
- RASopathy
- Missense
- ClinVar: Uncertain significance (RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- RAF1 Raf-like Ras-binding domain domainome 1.0: score -0.427