A481E (p.Ala481Glu) variant of BRAF (P15056)
A481E (p.Ala481Glu) in BRAF (P15056) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cardio-facio-cutaneous syndrome; Cardiofaciocutaneous syndrome 1; Neurodevelopme. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes published literature and structural context.
A481E (p.Ala481Glu) variant details
- p.Ala481Glu
- rs397516892
- ClinGen CA280004
- ClinVar RCV000037921
- ClinVar RCV002051804
- Pathogenic/Likely pathogenic
- Cardio-facio-cutaneous syndrome; Cardiofaciocutaneous syndrome 1; Neurodevelopme
- Missense
- Variant Prioritization Score for Impact Estimate 0.642
- AlphaMissense 1.00
- MetaLR 0.56
- MetaSVM 0.28
- PolyPhen-2 1.00
- EVE 0.72
- MutPred 0.71
- ClinVar: Pathogenic/Likely pathogenic (Cardio-facio-cutaneous syndrome; Cardiofaciocutaneous syndrome 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)