T54I (p.Thr54Ile) variant of RAF1 (P04049)
T54I (p.Thr54Ile) in RAF1 (P04049) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of RASopathy. The record also includes experimental measurements and structural context.
T54I (p.Thr54Ile) variant details
- p.Thr54Ile
- ExAC rs754798801
- TOPMed rs754798801
- gnomAD rs754798801
- Likely benign
- RASopathy
- Missense
- ClinVar: Likely benign (RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- RAF1 Raf-like Ras-binding domain domainome 1.0: score -0.103