K483Q (p.Lys483Gln) variant of BRAF (P15056)
K483Q (p.Lys483Gln) in BRAF (P15056) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cardio-facio-cutaneous syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes published literature and structural context.
K483Q (p.Lys483Gln) variant details
- p.Lys483Gln
- rs397507474
- ClinGen CA280055
- ClinVar RCV000150208
- ClinVar RCV001703444
- Pathogenic/Likely pathogenic
- Cardio-facio-cutaneous syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.7
- AlphaMissense 1.00
- MetaLR 0.62
- MetaSVM 0.53
- PolyPhen-2 1.00
- EVE 0.72
- ClinVar: Pathogenic/Likely pathogenic (Cardio-facio-cutaneous syndrome; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Cardiofaciocutaneous Syndrome. (PMID 20301365)