R233L (p.Arg233Leu) variant of FH (P07954)
R233L (p.Arg233Leu) in FH (P07954) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hereditary cancer-predisposing syndrome; not provided; Hereditary leiomyomatosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
R233L (p.Arg233Leu) variant details
- p.Arg233Leu
- rs121913123
- ClinGen CA257461
- ClinVar RCV000017624
- ClinVar RCV001781272
- Pathogenic/Likely pathogenic
- Hereditary cancer-predisposing syndrome; not provided; Hereditary leiomyomatosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.871
- REVEL 0.94
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.93
- CADD 26.70
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Hereditary cancer-predisposing syndrome; not provided; Hereditar)
- EBI: Pathogenic (in HLRCC)
- UniProt: Pathogenic (in HLRCC)
- Most common in the South Asian population (allele frequency 5.8e-05)
- Structural context available
- Cited in: Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North… (PMID 12772087)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)