R589G (p.Arg589Gly) variant of SDHA (P31040)
R589G (p.Arg589Gly) in SDHA (P31040) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hereditary cancer-predisposing syndrome; Pheochromocytoma/paraganglioma syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
R589G (p.Arg589Gly) variant details
- p.Arg589Gly
- rs387906780
- ClinGen CA359000339
- ClinVar RCV001234597
- ClinVar RCV005732329
- Likely pathogenic
- Hereditary cancer-predisposing syndrome; Pheochromocytoma/paraganglioma syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.718
- REVEL 0.75
- CADD 24.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Hereditary cancer-predisposing syndrome; Pheochromocytoma/paraga)
- EBI: Pathogenic (in PPGL5)
- UniProt: Pathogenic (in PPGL5)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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: Hereditary Paraganglioma-Pheochromocytoma Syndromes. (PMID 20301715)