G469E (p.Gly469Glu) variant of BRAF (P15056)
G469E (p.Gly469Glu) in BRAF (P15056) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
G469E (p.Gly469Glu) variant details
- p.Gly469Glu
- rs121913355
- Civic 993
- ClinGen CA279970
- NCI-TCGA Cosmic COSV5606
- Conflicting interpretations
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.773
- AlphaMissense 1.00
- MetaLR 0.75
- MetaSVM 0.61
- PolyPhen-2 0.98
- EVE 0.71
- MutPred 0.97
- ClinVar: Conflicting classifications of pathogenicity (RASopathy; Noonan syndrome 7; Epidermal nevus)
- EBI: Pathogenic (in CFC1 and colon cancer)
- UniProt: Pathogenic (in CFC1 and colon cancer)
- Population evidence available
- Structural context available
- Cited in: Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. (PMID 16474404)
- Cited in: Cardiofaciocutaneous Syndrome. (PMID 20301365)