C186Y (p.Cys186Tyr) variant of SDHB (P21912)
C186Y (p.Cys186Tyr) in SDHB (P21912) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Gastrointestinal stromal tumor; Pheochromocytoma/paraganglioma syndrome 4; Pheoc. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
C186Y (p.Cys186Tyr) variant details
- p.Cys186Tyr
- rs1553177440
- ClinGen CA338271379
- ClinVar RCV001377619
- Ensembl rs1553177440
- Pathogenic
- Gastrointestinal stromal tumor; Pheochromocytoma/paraganglioma syndrome 4; Pheoc
- Missense
- Variant Prioritization Score for Impact Estimate 0.915
- REVEL 0.94
- AlphaMissense 1.00
- MetaLR 1.00
- MetaSVM 1.38
- CADD 29.70
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Gastrointestinal stromal tumor; Pheochromocytoma/paraganglioma s)
- EBI: Pathogenic
- UniProt: 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)