Q386R (p.Gln386Arg) variant of FH (P07954)
Q386R (p.Gln386Arg) in FH (P07954) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Hereditary cancer-predisposing syndrome; Hereditary leiomyomatosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
Q386R (p.Gln386Arg) variant details
- p.Gln386Arg
- rs750447792
- ClinGen CA16610070
- ClinVar RCV000562894
- ClinVar RCV001551727
- Pathogenic/Likely pathogenic
- not provided; Hereditary cancer-predisposing syndrome; Hereditary leiomyomatosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.951
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 0.96
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.93
- ClinVar: Pathogenic/Likely pathogenic (not provided; Hereditary cancer-predisposing syndrome; Hereditar)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: FH Tumor Predisposition Syndrome. (PMID 20301430)