C93Y (p.Cys93Tyr) variant of SDHB (P21912)
C93Y (p.Cys93Tyr) in SDHB (P21912) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Pheochromocytoma/paraganglioma syndrome 4; Hereditary cancer-predi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
C93Y (p.Cys93Tyr) variant details
- p.Cys93Tyr
- rs1131691054
- ClinGen CA338276413
- ClinVar RCV002441395
- ClinVar RCV003336747
- Pathogenic/Likely pathogenic
- not provided; Pheochromocytoma/paraganglioma syndrome 4; Hereditary cancer-predi
- Missense
- Variant Prioritization Score for Impact Estimate 0.977
- AlphaMissense 1.00
- MetaLR 1.00
- MetaSVM 0.90
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.99
- ClinVar: Pathogenic/Likely pathogenic (not provided; Pheochromocytoma/paraganglioma syndrome 4; Heredit)
- 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)