L525Q (p.Leu525Gln) variant of BRAF (P15056)
L525Q (p.Leu525Gln) in BRAF (P15056) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Inborn genetic diseases; not provided; Cardiofaciocutaneous syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes published literature and structural context.
L525Q (p.Leu525Gln) variant details
- p.Leu525Gln
- rs869025340
- ClinGen CA369588212
- ClinVar RCV000622500
- ClinVar RCV001532123
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; not provided; Cardiofaciocutaneous syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- AlphaMissense 1.00
- MetaLR 0.31
- MetaSVM -0.56
- PolyPhen-2 0.98
- EVE 0.60
- MutPred 0.96
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; not provided; 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)