D19H (p.Asp19His) variant of RAF1 (P04049)
D19H (p.Asp19His) in RAF1 (P04049) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of RASopathy. The record also includes experimental measurements and structural context.
D19H (p.Asp19His) variant details
- p.Asp19His
- Ensembl rs2125453562
- Uncertain significance
- RASopathy
- Missense
- ClinVar: Uncertain significance (RASopathy)
- UniProt: Uncertain significance
- Structural context available
- RAF1 Raf-like Ras-binding domain domainome 1.0: score -0.292