R585Q (p.Arg585Gln) variant of SDHA (P31040)
R585Q (p.Arg585Gln) in SDHA (P31040) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Mitochondrial complex II deficiency, nuclear type 1; Pheochromocytoma/paragangli. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
R585Q (p.Arg585Gln) variant details
- p.Arg585Gln
- rs752360961
- ClinGen CA3173348
- cosmic curated COSV53772
- ClinVar RCV000227812
- Likely pathogenic
- Mitochondrial complex II deficiency, nuclear type 1; Pheochromocytoma/paragangli
- Missense
- Variant Prioritization Score for Impact Estimate 0.896
- REVEL 0.98
- CADD 26.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Pheochromocytoma/paraganglioma syndrome 5)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: The UK NEQAS for Molecular Genetics scheme for gastrointestinal stromal tumour: findings and recommendations following… (PMID 22685257)
- Cited in: Tumor markers in colorectal cancer, gastric cancer and gastrointestinal stromal cancers: European group on tumor… (PMID 23852704)