M53V (p.Met53Val) variant of BRAF (P15056)
M53V (p.Met53Val) 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.
M53V (p.Met53Val) variant details
- p.Met53Val
- rs2536570234
- ClinGen CA369588036
- ClinVar RCV003540052
- 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 -0.0245