R11C (p.Arg11Cys) variant of SDHB (P21912)
R11C (p.Arg11Cys) 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 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
R11C (p.Arg11Cys) variant details
- p.Arg11Cys
- rs200868378
- ClinGen CA089587
- ClinVar RCV000229964
- ClinVar RCV000564712
- Uncertain significance
- Pheochromocytoma; Gastrointestinal stromal tumor; Pheochromocytoma/paraganglioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- REVEL 0.53
- CADD 21.80
- PolyPhen-2 0.35
- SIFT 0.19
- ClinVar: Uncertain significance (Pheochromocytoma; Gastrointestinal stromal tumor; Pheochromocyto)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 3.5e-05)
- 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)