H574Y (p.His574Tyr) variant of BRAF (P15056)
H574Y (p.His574Tyr) in BRAF (P15056) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cardio-facio-cutaneous syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
H574Y (p.His574Tyr) variant details
- p.His574Tyr
- rs397516894
- ClinGen CA280019
- NCI-TCGA Cosmic COSV5611
- cosmic curated COSV56111
- Pathogenic
- Cardio-facio-cutaneous syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.9
- AlphaMissense 1.00
- MetaLR 0.94
- MetaSVM 1.08
- PolyPhen-2 1.00
- EVE 0.70
- MutPred 0.94
- ClinVar: Pathogenic (Cardio-facio-cutaneous syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Cardiofaciocutaneous Syndrome. (PMID 20301365)