I54V (p.Ile54Val) variant of BRAF (P15056)
I54V (p.Ile54Val) in BRAF (P15056) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiofaciocutaneous syndrome 1. The record also includes experimental measurements, published literature, and structural context.
I54V (p.Ile54Val) variant details
- p.Ile54Val
- rs2536570209
- ClinGen CA369588018
- ClinVar RCV002471358
- Uncertain significance
- Cardiofaciocutaneous syndrome 1
- Missense
- ClinVar: Uncertain significance (Cardiofaciocutaneous syndrome 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- BRAF Raf-like Ras-binding domain domainome 1.0: score -0.0516
- 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)