F635L (p.Phe635Leu) variant of BRAF (P15056)
F635L (p.Phe635Leu) in BRAF (P15056) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic/likely pathogenic in the context of RASopathy. The record also includes structural context.
F635L (p.Phe635Leu) variant details
- p.Phe635Leu
- Ensembl rs2128994523
- Pathogenic/Likely pathogenic
- RASopathy
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Cardio-facio-cutaneous syndrome; not provided; RASopathy)
- UniProt: Likely pathogenic
- Structural context available