K499E (p.Lys499Glu) variant of BRAF (P15056)
K499E (p.Lys499Glu) in BRAF (P15056) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Noonan syndrome and Noonan-related syndrome; Colorectal cancer; Noonan syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes published literature and structural context.
K499E (p.Lys499Glu) variant details
- p.Lys499Glu
- rs180177037
- ClinGen CA279972
- cosmic curated COSV56065
- ClinVar RCV000015010
- Pathogenic/Likely pathogenic
- Noonan syndrome and Noonan-related syndrome; Colorectal cancer; Noonan syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- AlphaMissense 0.93
- MetaLR 0.29
- MetaSVM -0.58
- PolyPhen-2 0.02
- EVE 0.64
- MutPred 0.81
- ClinVar: Pathogenic/Likely pathogenic (Noonan syndrome and Noonan-related syndrome; Colorectal cancer;)
- 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)