R40L (p.Arg40Leu) variant of RAF1 (P04049)
R40L (p.Arg40Leu) in RAF1 (P04049) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The record also includes population frequency data, experimental measurements, and structural context.
R40L (p.Arg40Leu) variant details
- p.Arg40Leu
- 1000Genomes rs192632236
- ExAC rs192632236
- TOPMed rs192632236
- gnomAD rs192632236
- Uncertain significance
- Cardiovascular phenotype
- Missense
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available
- RAF1 Raf-like Ras-binding domain domainome 1.0: score -0.136