R230L (p.Arg230Leu) variant of SDHB (P21912)
R230L (p.Arg230Leu) 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.
R230L (p.Arg230Leu) variant details
- p.Arg230Leu
- rs587782604
- ClinGen CA016097
- ClinVar RCV000164275
- ClinVar RCV000473831
- Pathogenic/Likely pathogenic
- Gastrointestinal stromal tumor; Pheochromocytoma; Pheochromocytoma/paraganglioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.897
- REVEL 0.97
- CADD 27.20
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Gastrointestinal stromal tumor; Pheochromocytoma; Pheochromocyto)
- EBI: Pathogenic (in MC2DN4)
- UniProt: Pathogenic (in MC2DN4)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)