R217L (p.Arg217Leu) variant of SDHB (P21912)
R217L (p.Arg217Leu) in SDHB (P21912) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Gastrointestinal stromal tumor; Pheochromocytoma; Pheochromocytoma/paraganglioma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
R217L (p.Arg217Leu) variant details
- p.Arg217Leu
- rs747518441
- ClinGen CA338270498
- ClinVar RCV001242943
- ClinVar RCV004803599
- Pathogenic/Likely pathogenic
- Gastrointestinal stromal tumor; Pheochromocytoma; Pheochromocytoma/paraganglioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.904
- REVEL 0.96
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Gastrointestinal stromal tumor; Pheochromocytoma; Pheochromocyto)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- 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)