S215F (p.Ser215Phe) variant of BRAF (P15056)
S215F (p.Ser215Phe) in BRAF (P15056) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Cardiofaciocutaneous syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes published literature and structural context.
S215F (p.Ser215Phe) variant details
- p.Ser215Phe
- rs1586237312
- ClinGen CA369591186
- cosmic curated COSV10730
- ClinVar RCV000987987
- Likely pathogenic
- Cardiofaciocutaneous syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- AlphaMissense 0.97
- MetaLR 0.46
- MetaSVM -0.11
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.23
- ClinVar: Likely pathogenic (Cardiofaciocutaneous syndrome 1)
- EBI: Likely pathogenic
- UniProt: Likely 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)