G469A (p.Gly469Ala) variant of BRAF (P15056)
G469A (p.Gly469Ala) in BRAF (P15056) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely oncogenic in the context of Neoplasm. 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.
G469A (p.Gly469Ala) variant details
- p.Gly469Ala
- rs121913355
- ClinGen CA123655
- NCI-TCGA Cosmic COSV5606
- cosmic curated COSV56061
- Likely oncogenic
- Neoplasm
- 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: Likely oncogenic (Neoplasm)
- EBI: Pathogenic (in NHL)
- UniProt: Pathogenic (in NHL)
- Population evidence available
- Structural context available
- Cited in: Mutations of the BRAF gene in human cancer. (PMID 12068308)
- Cited in: BRAF mutations in non-Hodgkin's lymphoma. (PMID 14612909)