F468S (p.Phe468Ser) variant of BRAF (P15056)
F468S (p.Phe468Ser) in BRAF (P15056) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of BRAF-related disorder; Noonan syndrome and Noonan-related syndrome; Cardio-facio. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
F468S (p.Phe468Ser) variant details
- p.Phe468Ser
- rs397507473
- ClinGen CA280002
- cosmic curated COSV56193
- ClinVar RCV000033305
- Pathogenic/Likely pathogenic
- BRAF-related disorder; Noonan syndrome and Noonan-related syndrome; Cardio-facio
- Missense
- Variant Prioritization Score for Impact Estimate 0.647
- AlphaMissense 1.00
- MetaLR 0.62
- MetaSVM 0.28
- PolyPhen-2 0.47
- EVE 0.70
- MutPred 0.91
- ClinVar: Pathogenic/Likely pathogenic (BRAF-related disorder; Noonan syndrome and Noonan-related syndro)
- EBI: Pathogenic (in CFC1)
- UniProt: Pathogenic (in CFC1)
- Population evidence available
- Structural context available
- Cited in: Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. (PMID 16439621)
- Cited in: Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome. (PMID 18042262)