N581K (p.Asn581Lys) variant of BRAF (P15056)
N581K (p.Asn581Lys) in BRAF (P15056) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cardio-facio-cutaneous syndrome; not provided; Lung carcinoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
N581K (p.Asn581Lys) variant details
- p.Asn581Lys
- rs397516895
- ClinGen CA280022
- ClinVar RCV000037929
- ClinVar RCV000524048
- Pathogenic/Likely pathogenic
- Cardio-facio-cutaneous syndrome; not provided; Lung carcinoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.97
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.92
- PolyPhen-2 1.00
- MutPred 0.92
- ClinVar: Pathogenic/Likely pathogenic (Cardio-facio-cutaneous syndrome; not provided; Lung carcinoma)
- EBI: Pathogenic (in a colorectal adenocarcinoma sample)
- UniProt: Pathogenic (in a colorectal adenocarcinoma sample)
- 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)