Q709R (p.Gln709Arg) variant of BRAF (P15056)
Q709R (p.Gln709Arg) in BRAF (P15056) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cardiofaciocutaneous syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes published literature and structural context.
Q709R (p.Gln709Arg) variant details
- p.Gln709Arg
- rs397507486
- ClinVar RCV004999146
- UniProt VAR 058631
- Ensembl rs397507486
- Pathogenic
- Cardiofaciocutaneous syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.809
- AlphaMissense 0.73
- MetaLR 0.93
- MetaSVM 1.06
- PolyPhen-2 0.28
- EVE 0.64
- MutPred 0.81
- ClinVar: Pathogenic (Cardiofaciocutaneous syndrome 1)
- 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: Cardiofaciocutaneous Syndrome. (PMID 20301365)