G326E (p.Gly326Glu) variant of FH (P07954)
G326E (p.Gly326Glu) 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; Hereditary leiomyomatosis and renal cel. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
G326E (p.Gly326Glu) variant details
- p.Gly326Glu
- rs1553341037
- ClinGen CA345438297
- ClinVar RCV002386007
- ClinVar RCV002533197
- Pathogenic/Likely pathogenic
- Hereditary cancer-predisposing syndrome; Hereditary leiomyomatosis and renal cel
- Missense
- Variant Prioritization Score for Impact Estimate 0.893
- REVEL 0.97
- CADD 26.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Hereditary cancer-predisposing syndrome; Hereditary leiomyomatos)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)