D594V (p.Asp594Val) variant of BRAF (P15056)
D594V (p.Asp594Val) in BRAF (P15056) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes published literature and structural context.
D594V (p.Asp594Val) variant details
- p.Asp594Val
- rs121913338
- Civic 580
- ClinGen CA16602425
- cosmic curated COSV56283
- Pathogenic
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.789
- AlphaMissense 1.00
- MetaLR 0.72
- MetaSVM 0.80
- PolyPhen-2 1.00
- EVE 0.71
- MutPred 0.96
- ClinVar: Pathogenic (RASopathy)
- EBI: Pathogenic (in NHL)
- UniProt: Pathogenic (in NHL)
- Structural context available
- Cited in: Cardiofaciocutaneous Syndrome. (PMID 20301365)
- Cited in: Kinase-dead BRAF and oncogenic RAS cooperate to drive tumor progression through CRAF. (PMID 20141835)