G534R (p.Gly534Arg) variant of BRAF (P15056)
G534R (p.Gly534Arg) in BRAF (P15056) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Inborn genetic diseases; Cardio-facio-cutaneous syndrome; Cardiofaciocutaneous s. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes published literature and structural context.
G534R (p.Gly534Arg) variant details
- p.Gly534Arg
- rs180177041
- ClinGen CA279978
- cosmic curated COSV56070
- ClinVar RCV000015014
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; Cardio-facio-cutaneous syndrome; Cardiofaciocutaneous s
- Missense
- Variant Prioritization Score for Impact Estimate 0.503
- AlphaMissense 1.00
- MetaLR 0.32
- MetaSVM -0.63
- PolyPhen-2 0.79
- EVE 0.71
- MutPred 0.86
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; Cardio-facio-cutaneous syndrome; Cardio)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of… (PMID 16372351)
- Cited in: Distinguishing Costello versus cardio-facio-cutaneous syndrome: BRAF mutations in patients with a Costello phenotype. (PMID 16804887)