G96C (p.Gly96Cys) variant of SDHB (P21912)
G96C (p.Gly96Cys) in SDHB (P21912) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary pheochromocytoma and paraganglioma; Pheochromocytoma; Gastrointestina. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
G96C (p.Gly96Cys) variant details
- p.Gly96Cys
- rs587782243
- ClinGen CA338276378
- ClinVar RCV001973450
- ClinVar RCV004804332
- Conflicting interpretations
- Hereditary pheochromocytoma and paraganglioma; Pheochromocytoma; Gastrointestina
- Missense
- Variant Prioritization Score for Impact Estimate 0.968
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.94
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.90
- ClinVar: Conflicting classifications of pathogenicity (Hereditary pheochromocytoma and paraganglioma; Pheochromocytoma;)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)