R230C (p.Arg230Cys) variant of SDHB (P21912)
R230C (p.Arg230Cys) 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 0.93 / 1. The record also includes population frequency data, published literature, and structural context.
R230C (p.Arg230Cys) variant details
- p.Arg230Cys
- rs138996609
- ClinGen CA016074
- NCI-TCGA Cosmic COSV6496
- ClinVar RCV000164435
- Pathogenic/Likely pathogenic
- Gastrointestinal stromal tumor; Pheochromocytoma; Pheochromocytoma/paraganglioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.932
- REVEL 0.97
- AlphaMissense 0.96
- MetaLR 0.97
- MetaSVM 1.07
- CADD 33.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Gastrointestinal stromal tumor; Pheochromocytoma; Pheochromocyto)
- EBI: Pathogenic (in PPGL4)
- UniProt: Pathogenic (in PPGL4)
- Most common in the 1KG:CHB population (allele frequency 0.0049)
- Structural context available
- Cited in: Mutations in the SDHB gene are associated with extra-adrenal and/or malignant phaeochromocytomas. (PMID 14500403)
- Cited in: The UK NEQAS for Molecular Genetics scheme for gastrointestinal stromal tumour: findings and recommendations following… (PMID 22685257)