K601Q (p.Lys601Gln) variant of BRAF (P15056)
K601Q (p.Lys601Gln) in BRAF (P15056) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.47 / 1. The record also includes published literature and structural context.
K601Q (p.Lys601Gln) variant details
- p.Lys601Gln
- rs121913364
- ClinGen CA215454
- ClinVar RCV000034332
- ClinVar RCV000150201
- Pathogenic
- LEOPARD syndrome 3; Noonan syndrome 7; Cardiofaciocutaneous syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- AlphaMissense 0.98
- MetaLR 0.24
- MetaSVM -0.77
- PolyPhen-2 0.99
- EVE 0.67
- MutPred 0.86
- ClinVar: Pathogenic (LEOPARD syndrome 3; Noonan syndrome 7; Cardiofaciocutaneous synd)
- EBI: Pathogenic (in CFC1)
- UniProt: Pathogenic (in CFC1)
- Structural context available
- Cited in: Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated… (PMID 19206169)
- Cited in: Cardiofaciocutaneous Syndrome. (PMID 20301365)