D594E (p.Asp594Glu) variant of BRAF (P15056)
D594E (p.Asp594Glu) in BRAF (P15056) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Cardio-facio-cutaneous syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes published literature and structural context.
D594E (p.Asp594Glu) variant details
- p.Asp594Glu
- rs121913337
- NCI-TCGA Cosmic COSV5608
- cosmic curated COSV56082
- NCI-TCGA Cosmic COSV5619
- Likely pathogenic
- Cardio-facio-cutaneous syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.643
- AlphaMissense 1.00
- MetaLR 0.56
- MetaSVM 0.24
- PolyPhen-2 1.00
- EVE 0.72
- MutPred 0.97
- ClinVar: Likely pathogenic (Cardio-facio-cutaneous syndrome)
- EBI: Pathogenic (in NHL)
- UniProt: Pathogenic (in NHL)
- Structural context available
- Cited in: Cardiofaciocutaneous Syndrome. (PMID 20301365)