R233H (p.Arg233His) variant of FH (P07954)
R233H (p.Arg233His) in FH (P07954) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
R233H (p.Arg233His) variant details
- p.Arg233His
- rs121913123
- ClinGen CA257459
- NCI-TCGA Cosmic COSV1008
- ClinVar RCV000017623
- Pathogenic
- Hereditary cancer-predisposing syndrome; not provided; Hereditary leiomyomatosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.88
- REVEL 0.96
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.93
- CADD 26.80
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Hereditary cancer-predisposing syndrome; not provided; Hereditar)
- EBI: Pathogenic (in HLRCC)
- UniProt: Pathogenic (in HLRCC)
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell… (PMID 11865300)
- Cited in: Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North… (PMID 12772087)