L597R (p.Leu597Arg) variant of BRAF (P15056)
L597R (p.Leu597Arg) in BRAF (P15056) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Lung adenocarcinoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
L597R (p.Leu597Arg) variant details
- p.Leu597Arg
- rs121913366
- ClinGen CA123649
- cosmic curated COSV56121
- ClinVar RCV000015002
- Pathogenic
- Lung adenocarcinoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.721
- AlphaMissense 1.00
- MetaLR 0.64
- MetaSVM 0.60
- PolyPhen-2 1.00
- EVE 0.72
- ClinVar: Pathogenic (Lung adenocarcinoma)
- EBI: Pathogenic (in LNCR)
- UniProt: Pathogenic (in LNCR)
- Population evidence available
- Structural context available
- Cited in: Mutations of the BRAF gene in human cancer. (PMID 12068308)
- Cited in: Missense mutations of the BRAF gene in human lung adenocarcinoma. (PMID 12460919)