C189F (p.Cys189Phe) variant of SDHB (P21912)
C189F (p.Cys189Phe) in SDHB (P21912) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Pheochromocytoma; Gastrointestinal stromal tumor; Pheochromocytoma/paraganglioma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
C189F (p.Cys189Phe) variant details
- p.Cys189Phe
- rs876658540
- ClinGen CA10577673
- ClinVar RCV000215934
- ClinVar RCV000505376
- Pathogenic/Likely pathogenic
- Pheochromocytoma; Gastrointestinal stromal tumor; Pheochromocytoma/paraganglioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.969
- AlphaMissense 1.00
- MetaLR 1.00
- MetaSVM 0.89
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.98
- ClinVar: Pathogenic/Likely pathogenic (Pheochromocytoma; Gastrointestinal stromal tumor; Pheochromocyto)
- EBI: Pathogenic
- UniProt: 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)