L485S (p.Leu485Ser) variant of BRAF (P15056)
L485S (p.Leu485Ser) in BRAF (P15056) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
L485S (p.Leu485Ser) variant details
- p.Leu485Ser
- rs397507475
- ClinGen CA280052
- cosmic curated COSV56173
- ClinVar RCV000033311
- Likely pathogenic
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.542
- AlphaMissense 1.00
- MetaLR 0.39
- MetaSVM -0.23
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.72
- ClinVar: Likely pathogenic (RASopathy)
- EBI: Pathogenic (in CFC1)
- UniProt: Pathogenic (in CFC1)
- Population evidence available
- Structural context available
- Cited in: Cardiofaciocutaneous Syndrome. (PMID 20301365)
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