L485F (p.Leu485Phe) variant of BRAF (P15056)
L485F (p.Leu485Phe) in BRAF (P15056) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes published literature and structural context.
L485F (p.Leu485Phe) variant details
- p.Leu485Phe
- rs180177036
- ClinGen CA280060
- NCI-TCGA Cosmic COSV5639
- cosmic curated COSV56396
- Pathogenic
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- AlphaMissense 1.00
- MetaLR 0.18
- MetaSVM -0.70
- PolyPhen-2 0.26
- SIFT 0.20
- EVE 0.68
- ClinVar: Pathogenic (RASopathy)
- EBI: Pathogenic (in CFC1)
- UniProt: Pathogenic (in CFC1)
- Structural context available
- Cited in: Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. (PMID 16439621)
- Cited in: Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. (PMID 16474404)