A712D (p.Ala712Asp) variant of BRAF (P15056)
A712D (p.Ala712Asp) 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; Lung cancer; Colorectal cancer. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes published literature and structural context.
A712D (p.Ala712Asp) variant details
- p.Ala712Asp
- rs727502904
- ClinGen CA273127
- ClinVar RCV000150197
- ClinVar RCV000788373
- Pathogenic/Likely pathogenic
- Cardiofaciocutaneous syndrome 1; Lung cancer; Colorectal cancer
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- AlphaMissense 0.65
- MetaLR 0.29
- MetaSVM -0.71
- PolyPhen-2 0.16
- EVE 0.15
- MutPred 0.34
- ClinVar: Pathogenic/Likely pathogenic (Cardiofaciocutaneous syndrome 1; Lung cancer; Colorectal cancer)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)