Q257K (p.Gln257Lys) variant of BRAF (P15056)
Q257K (p.Gln257Lys) 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; Cardio-facio-cutaneous syndrome; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes published literature and structural context.
Q257K (p.Gln257Lys) variant details
- p.Gln257Lys
- rs397507469
- ClinGen CA280030
- cosmic curated COSV56081
- ClinVar RCV000033288
- Pathogenic/Likely pathogenic
- Noonan syndrome; Cardio-facio-cutaneous syndrome; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.679
- AlphaMissense 0.99
- MetaLR 0.80
- MetaSVM 0.70
- PolyPhen-2 0.48
- SIFT 0.04
- EVE 0.26
- ClinVar: Pathogenic/Likely pathogenic (Noonan syndrome; Cardio-facio-cutaneous syndrome; Inborn genetic)
- EBI: Pathogenic (in CFC1)
- UniProt: Pathogenic (in CFC1)
- Structural context available
- Cited in: Cardiofaciocutaneous Syndrome. (PMID 20301365)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)