R15G (p.Arg15Gly) variant of SDHC (Q99643)
R15G (p.Arg15Gly) in SDHC (Q99643) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Pheochromocytoma/paraganglioma syndrome 3; Gastrointestinal stroma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes published literature and structural context.
R15G (p.Arg15Gly) variant details
- p.Arg15Gly
- rs201286421
- ClinGen CA343359413
- ClinVar RCV001875430
- ClinVar RCV002473317
- Uncertain significance
- not provided; Pheochromocytoma/paraganglioma syndrome 3; Gastrointestinal stroma
- Missense
- Variant Prioritization Score for Impact Estimate 0.646
- AlphaMissense 0.12
- MetaLR 0.84
- MetaSVM 0.71
- PolyPhen-2 0.25
- SIFT 0.33
- MutPred 0.52
- ClinVar: Uncertain significance (not provided; Pheochromocytoma/paraganglioma syndrome 3; Gastroi)
- 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)