C532Y (p.Cys532Tyr) variant of BRAF (P15056)
C532Y (p.Cys532Tyr) 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 0.53 / 1. The record also includes published literature and structural context.
C532Y (p.Cys532Tyr) variant details
- p.Cys532Tyr
- rs397507479
- ClinGen CA175337
- ClinVar RCV000080902
- ClinVar RCV000150205
- Likely pathogenic
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- AlphaMissense 1.00
- MetaLR 0.38
- MetaSVM -0.45
- PolyPhen-2 1.00
- EVE 0.71
- MutPred 0.85
- ClinVar: Likely pathogenic (RASopathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Cardiofaciocutaneous Syndrome. (PMID 20301365)