H540Y (p.His540Tyr) variant of BRAF (P15056)
H540Y (p.His540Tyr) in BRAF (P15056) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic in the context of Cardio-facio-cutaneous syndrome. The record also includes structural context.
H540Y (p.His540Tyr) variant details
- p.His540Tyr
- Ensembl rs2129018339
- Pathogenic
- Cardio-facio-cutaneous syndrome
- Missense
- ClinVar: Pathogenic (Cardio-facio-cutaneous syndrome)
- UniProt: Pathogenic
- Structural context available