C68R (p.Cys68Arg) variant of SDHB (P21912)
C68R (p.Cys68Arg) in SDHB (P21912) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Pheochromocytoma; Gastrointestinal stromal tumor; Pheochromocytoma/paraganglioma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes published literature and structural context.
C68R (p.Cys68Arg) variant details
- p.Cys68Arg
- rs2101529119
- ClinGen CA338276644
- ClinVar RCV001932073
- ClinVar RCV005482934
- Conflicting interpretations
- Pheochromocytoma; Gastrointestinal stromal tumor; Pheochromocytoma/paraganglioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.814
- AlphaMissense 0.98
- MetaLR 0.97
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.38
- ClinVar: Conflicting classifications of pathogenicity (Pheochromocytoma; Gastrointestinal stromal tumor; Pheochromocyto)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)