K499N (p.Lys499Asn) variant of BRAF (P15056)
K499N (p.Lys499Asn) in BRAF (P15056) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes published literature and structural context.
K499N (p.Lys499Asn) variant details
- p.Lys499Asn
- rs397507476
- ClinGen CA281976
- NCI-TCGA Cosmic COSV5641
- cosmic curated COSV56417
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.576
- AlphaMissense 1.00
- MetaLR 0.52
- MetaSVM 0.11
- PolyPhen-2 0.95
- EVE 0.59
- MutPred 0.89
- ClinVar: Pathogenic (Cardiofaciocutaneous syndrome 1)
- EBI: Pathogenic (in CFC1)
- UniProt: Pathogenic (in CFC1)
- Structural context available
- Cited in: Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome. (PMID 18042262)
- Cited in: Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated… (PMID 19206169)