F247L (p.Phe247Leu) variant of BRAF (P15056)
F247L (p.Phe247Leu) in BRAF (P15056) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Noonan syndrome and Noonan-related syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes published literature and structural context.
F247L (p.Phe247Leu) variant details
- p.Phe247Leu
- rs397509343
- ClinGen CA284654
- NCI-TCGA Cosmic COSV5616
- cosmic curated COSV56165
- Pathogenic
- Noonan syndrome and Noonan-related syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.663
- AlphaMissense 1.00
- MetaLR 0.78
- MetaSVM 0.50
- PolyPhen-2 0.81
- SIFT 0.00
- EVE 0.31
- ClinVar: Pathogenic (Noonan syndrome 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)
- Cited in: Noonan syndrome: clinical features, diagnosis, and management guidelines. (PMID 20876176)