V600L (p.Val600Leu) variant of BRAF (P15056)
V600L (p.Val600Leu) in BRAF (P15056) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cardiofaciocutaneous syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes published literature and structural context.
V600L (p.Val600Leu) variant details
- p.Val600Leu
- rs121913378
- ClinGen CA16602737
- NCI-TCGA Cosmic COSV5606
- NCI-TCGA Cosmic COSV5607
- Pathogenic/Likely pathogenic
- Cardiofaciocutaneous syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- AlphaMissense 0.93
- MetaLR 0.38
- MetaSVM -0.47
- PolyPhen-2 0.04
- EVE 0.52
- MutPred 0.49
- ClinVar: Pathogenic/Likely pathogenic (Cardiofaciocutaneous syndrome 1)
- EBI: Pathogenic (in CRC)
- UniProt: Pathogenic (in CRC)
- Structural context available
- Cited in: Cardiofaciocutaneous Syndrome. (PMID 20301365)
- Cited in: 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and… (PMID 25173338)