A117P (p.Ala117Pro) variant of FH (P07954)
A117P (p.Ala117Pro) 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 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
A117P (p.Ala117Pro) variant details
- p.Ala117Pro
- rs886039363
- ClinGen CA10588292
- ClinVar RCV000255340
- ClinVar RCV001020456
- Pathogenic/Likely pathogenic
- Hereditary cancer-predisposing syndrome; not provided; Hereditary leiomyomatosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.838
- REVEL 0.89
- CADD 25.30
- PolyPhen-2 0.89
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Hereditary cancer-predisposing syndrome; not provided; Hereditar)
- EBI: Pathogenic (in HLRCC)
- UniProt: Pathogenic (in HLRCC)
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- 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: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)