F247S (p.Phe247Ser) variant of BRAF (P15056)
F247S (p.Phe247Ser) in BRAF (P15056) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Noonan syndrome and Noonan-related syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes structural context.
F247S (p.Phe247Ser) variant details
- p.Phe247Ser
- rs397507467
- ClinGen CA281951
- ClinVar RCV000788011
- ClinVar RCV001703443
- Likely pathogenic
- Noonan syndrome and Noonan-related syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.74
- AlphaMissense 1.00
- MetaLR 0.84
- MetaSVM 0.85
- PolyPhen-2 0.98
- SIFT 0.01
- EVE 0.30
- ClinVar: Likely pathogenic (Noonan syndrome and Noonan-related syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available