G96R (p.Gly96Arg) variant of SDHB (P21912)
G96R (p.Gly96Arg) in SDHB (P21912) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Pheochromocytoma; Gastrointestinal stromal tumor; Pheochromocytoma/paraganglioma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
G96R (p.Gly96Arg) variant details
- p.Gly96Arg
- rs587782243
- ClinGen CA338276380
- ClinVar RCV003809180
- ExAC rs587782243
- Uncertain significance
- Pheochromocytoma; Gastrointestinal stromal tumor; Pheochromocytoma/paraganglioma
- 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: Uncertain significance (Pheochromocytoma; Gastrointestinal stromal tumor; Pheochromocyto)
- 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)