L245F (p.Leu245Phe) variant of BRAF (P15056)
L245F (p.Leu245Phe) 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 0.71 / 1. The record also includes published literature and structural context.
L245F (p.Leu245Phe) variant details
- p.Leu245Phe
- rs397507466
- ClinGen CA280029
- ClinVar RCV000033284
- ClinVar RCV000037957
- Pathogenic
- Noonan syndrome and Noonan-related syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.707
- AlphaMissense 1.00
- MetaLR 0.77
- MetaSVM 0.53
- PolyPhen-2 0.82
- SIFT 0.00
- EVE 0.47
- ClinVar: Pathogenic (Noonan syndrome and Noonan-related syndrome)
- EBI: Pathogenic (in CFC1)
- UniProt: Pathogenic (in CFC1)
- Structural context available
- Cited in: Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated… (PMID 19206169)
- Cited in: Novel BRAF mutation in a patient with LEOPARD syndrome and normal intelligence. (PMID 19416762)