L597V (p.Leu597Val) variant of BRAF (P15056)
L597V (p.Leu597Val) in BRAF (P15056) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Noonan syndrome and Noonan-related syndrome; Cardio-facio-cutaneous syndrome; No. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes published literature and structural context.
L597V (p.Leu597Val) variant details
- p.Leu597Val
- rs121913369
- ClinGen CA123651
- NCI-TCGA Cosmic COSV5612
- cosmic curated COSV56128
- Pathogenic
- Noonan syndrome and Noonan-related syndrome; Cardio-facio-cutaneous syndrome; No
- Missense
- Variant Prioritization Score for Impact Estimate 0.778
- AlphaMissense 0.99
- MetaLR 0.78
- MetaSVM 0.56
- PolyPhen-2 0.93
- EVE 0.71
- MutPred 0.95
- ClinVar: Pathogenic (Noonan syndrome and Noonan-related syndrome; Cardio-facio-cutane)
- EBI: Pathogenic (in NS7)
- UniProt: Pathogenic (in NS7)
- Structural context available
- Cited in: Mutations of the BRAF gene in human cancer. (PMID 12068308)
- Cited in: BRAF and RAS mutations in human lung cancer and melanoma. (PMID 12460918)