F595L (p.Phe595Leu) variant of BRAF (P15056)
F595L (p.Phe595Leu) in BRAF (P15056) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
F595L (p.Phe595Leu) variant details
- p.Phe595Leu
- rs794729219
- ClinGen CA280071
- cosmic curated COSV56127
- ClinVar RCV000184039
- Pathogenic/Likely pathogenic
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.92
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.94
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.72
- ClinVar: Pathogenic/Likely pathogenic (Cardio-facio-cutaneous syndrome; not provided; RASopathy)
- EBI: Pathogenic (in CFC1)
- UniProt: Pathogenic (in CFC1)
- Structural context available
- Cited in: Mutations of the BRAF gene in human cancer. (PMID 12068308)
- Cited in: Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. (PMID 16439621)