N581D (p.Asn581Asp) variant of BRAF (P15056)
N581D (p.Asn581Asp) in BRAF (P15056) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cardio-facio-cutaneous syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
N581D (p.Asn581Asp) variant details
- p.Asn581Asp
- rs180177040
- ClinGen CA279976
- cosmic curated COSV56286
- ClinVar RCV000015013
- Pathogenic
- Cardio-facio-cutaneous syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.978
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.94
- PolyPhen-2 1.00
- MutPred 0.96
- ClinVar: Pathogenic (Cardio-facio-cutaneous syndrome)
- EBI: Pathogenic (in CFC1)
- UniProt: Pathogenic (in CFC1)
- Structural context available
- Cited in: Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. (PMID 16439621)
- Cited in: Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. (PMID 16474404)