W531L (p.Trp531Leu) variant of BRAF (P15056)
W531L (p.Trp531Leu) in BRAF (P15056) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of 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.
W531L (p.Trp531Leu) variant details
- p.Trp531Leu
- rs397507478
- ClinGen CA281983
- cosmic curated COSV10942
- ClinVar RCV000626038
- Likely pathogenic
- Cardiofaciocutaneous syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- AlphaMissense 0.99
- MetaLR 0.25
- MetaSVM -0.46
- PolyPhen-2 0.39
- EVE 0.72
- MutPred 0.88
- ClinVar: Likely pathogenic (Cardiofaciocutaneous syndrome 1)
- EBI: Pathogenic (in NS7)
- UniProt: Pathogenic (in NS7)
- 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)