F247V (p.Phe247Val) variant of BRAF (P15056)
F247V (p.Phe247Val) 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 0.73 / 1. The record also includes published literature and structural context.
F247V (p.Phe247Val) variant details
- p.Phe247Val
- rs397516903
- ClinGen CA135140
- ClinVar RCV000037958
- ClinVar RCV000339233
- Likely pathogenic
- Noonan syndrome and Noonan-related syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.733
- AlphaMissense 1.00
- MetaLR 0.83
- MetaSVM 0.86
- PolyPhen-2 0.81
- SIFT 0.00
- EVE 0.31
- ClinVar: Likely pathogenic (Noonan syndrome and Noonan-related syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Cardiofaciocutaneous Syndrome. (PMID 20301365)
- Cited in: Noonan Syndrome. (PMID 20301303)