K601I (p.Lys601Ile) variant of BRAF (P15056)
K601I (p.Lys601Ile) in BRAF (P15056) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of LEOPARD syndrome 3; Noonan syndrome 7; Cardiofaciocutaneous syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes published literature and structural context.
K601I (p.Lys601Ile) variant details
- p.Lys601Ile
- rs397507484
- ClinGen CA282001
- cosmic curated COSV56115
- ClinVar RCV000033336
- Pathogenic/Likely pathogenic
- LEOPARD syndrome 3; Noonan syndrome 7; Cardiofaciocutaneous syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- AlphaMissense 0.98
- MetaLR 0.20
- MetaSVM -0.85
- PolyPhen-2 0.78
- EVE 0.72
- MutPred 0.70
- ClinVar: Pathogenic/Likely pathogenic (LEOPARD syndrome 3; Noonan syndrome 7; Cardiofaciocutaneous synd)
- EBI: Pathogenic (in CFC1)
- UniProt: Pathogenic (in CFC1)
- 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)