G28R (p.Gly28Arg) variant of SDHB (P21912)
G28R (p.Gly28Arg) in SDHB (P21912) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Gastrointestinal stromal tumor; Pheochromocytoma; Pheochromocytoma/paraganglioma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes published literature and structural context.
G28R (p.Gly28Arg) variant details
- p.Gly28Arg
- rs2078100857
- ClinGen CA338228400
- ClinVar RCV001242236
- ClinVar RCV005480644
- Uncertain significance
- Gastrointestinal stromal tumor; Pheochromocytoma; Pheochromocytoma/paraganglioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.61
- AlphaMissense 0.22
- MetaLR 0.81
- MetaSVM 0.18
- PolyPhen-2 0.07
- SIFT 0.32
- MutPred 0.29
- ClinVar: Uncertain significance (Gastrointestinal stromal tumor; Pheochromocytoma; Pheochromocyto)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)