R11C (p.Arg11Cys) variant of SDHC (Q99643)
R11C (p.Arg11Cys) in SDHC (Q99643) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary pheochromocytoma and paraganglioma; not specified; Hereditary cancer. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
R11C (p.Arg11Cys) variant details
- p.Arg11Cys
- rs759914119
- ClinGen CA047542
- ClinVar RCV000700704
- ClinVar RCV002268262
- Uncertain significance
- Hereditary pheochromocytoma and paraganglioma; not specified; Hereditary cancer
- Missense
- Variant Prioritization Score for Impact Estimate 0.742
- REVEL 0.78
- MetaLR 0.91
- MetaSVM 1.00
- CADD 23.20
- PolyPhen-2 0.06
- SIFT 0.22
- ClinVar: Uncertain significance (Hereditary pheochromocytoma and paraganglioma; not specified; He)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- 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)