E501G (p.Glu501Gly) variant of BRAF (P15056)
E501G (p.Glu501Gly) in BRAF (P15056) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cardio-facio-cutaneous syndrome; not provided; RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes published literature and structural context.
E501G (p.Glu501Gly) variant details
- p.Glu501Gly
- rs180177039
- ClinGen CA279974
- ClinVar RCV000015012
- ClinVar RCV000207518
- Pathogenic/Likely pathogenic
- Cardio-facio-cutaneous syndrome; not provided; RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.703
- AlphaMissense 1.00
- MetaLR 0.61
- MetaSVM 0.49
- PolyPhen-2 1.00
- EVE 0.70
- MutPred 0.98
- ClinVar: Pathogenic/Likely pathogenic (Cardio-facio-cutaneous syndrome; not provided; RASopathy)
- EBI: Pathogenic (in CFC1)
- UniProt: Pathogenic (in CFC1)
- Structural context available
- Cited in: Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. (PMID 16439621)
- Cited in: Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. (PMID 16474404)