P74L (p.Pro74Leu) variant of BRAF (P15056)
P74L (p.Pro74Leu) in BRAF (P15056) 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.
P74L (p.Pro74Leu) variant details
- p.Pro74Leu
- rs2536569692
- ClinGen CA369587727
- ClinVar RCV003655808
- Uncertain significance
- RASopathy
- Missense
- ClinVar: Uncertain significance (RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- BRAF Raf-like Ras-binding domain domainome 1.0: score -0.114