R101P (p.Arg101Pro) variant of FH (P07954)
R101P (p.Arg101Pro) 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 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
R101P (p.Arg101Pro) variant details
- p.Arg101Pro
- rs75086406
- ClinGen CA341389
- ClinVar RCV000017625
- ClinVar RCV000489422
- Pathogenic/Likely pathogenic
- Hereditary cancer-predisposing syndrome; not provided; Hereditary leiomyomatosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.63
- AlphaMissense 0.14
- MetaLR 0.86
- MetaSVM 0.89
- PolyPhen-2 0.94
- SIFT 0.17
- EVE 0.13
- ClinVar: Pathogenic/Likely pathogenic (Hereditary cancer-predisposing syndrome; not provided; Hereditar)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Familial multiple cutaneous and uterine leiomyomas associated with papillary renal cell cancer. (PMID 15663510)
- Cited in: Evidence for a founder effect of the germline fumarate hydratase gene mutation R58P causing hereditary leiomyomatosis… (PMID 17908262)