R589W (p.Arg589Trp) variant of SDHA (P31040)
R589W (p.Arg589Trp) in SDHA (P31040) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Inherited phaeochromocytoma and paraganglioma excluding NF1; Hereditary cancer-p. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
R589W (p.Arg589Trp) variant details
- p.Arg589Trp
- rs387906780
- ClinGen CA342723
- cosmic curated COSV53766
- ClinVar RCV000023042
- Pathogenic/Likely pathogenic
- Inherited phaeochromocytoma and paraganglioma excluding NF1; Hereditary cancer-p
- Missense
- Variant Prioritization Score for Impact Estimate 0.73
- REVEL 0.77
- CADD 25.00
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic (Inherited phaeochromocytoma and paraganglioma excluding NF1; Her)
- EBI: Pathogenic (in PPGL5)
- UniProt: Pathogenic (in PPGL5)
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: SDHA is a tumor suppressor gene causing paraganglioma. (PMID 20484225)
- Cited in: The UK NEQAS for Molecular Genetics scheme for gastrointestinal stromal tumour: findings and recommendations following… (PMID 22685257)