G469R (p.Gly469Arg) variant of BRAF (P15056)
G469R (p.Gly469Arg) in BRAF (P15056) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Non-small cell lung carcinoma; Noonan syndrome and Noonan-related syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
G469R (p.Gly469Arg) variant details
- p.Gly469Arg
- rs121913357
- ClinGen CA180746
- NCI-TCGA Cosmic COSV5607
- cosmic curated COSV56070
- Pathogenic
- Non-small cell lung carcinoma; Noonan syndrome and Noonan-related syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.886
- AlphaMissense 1.00
- MetaLR 0.92
- MetaSVM 1.07
- PolyPhen-2 1.00
- EVE 0.69
- MutPred 0.92
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic (in NHL)
- UniProt: Pathogenic (in NHL)
- Structural context available
- Cited in: BRAF mutations in non-Hodgkin's lymphoma. (PMID 14612909)
- Cited in: BRAF mutations in metastatic melanoma: a possible association with clinical outcome. (PMID 12960123)