C189Y (p.Cys189Tyr) variant of SDHB (P21912)
C189Y (p.Cys189Tyr) in SDHB (P21912) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Pheochromocytoma; Pheochromocytoma/paraganglioma syndrome 4; Gastrointestinal st. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
C189Y (p.Cys189Tyr) variant details
- p.Cys189Tyr
- rs876658540
- ClinGen CA338271313
- ClinVar RCV002648129
- ClinVar RCV005055461
- Likely pathogenic
- Pheochromocytoma; Pheochromocytoma/paraganglioma syndrome 4; Gastrointestinal st
- 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: Likely pathogenic (Pheochromocytoma; Pheochromocytoma/paraganglioma syndrome 4; Gas)
- 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)