C113Y (p.Cys113Tyr) variant of SDHB (P21912)
C113Y (p.Cys113Tyr) 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; Pheochromocytoma/paraganglioma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
C113Y (p.Cys113Tyr) variant details
- p.Cys113Tyr
- rs864321636
- ClinGen CA338274769
- ClinVar RCV001211133
- Ensembl rs864321636
- Pathogenic
- Gastrointestinal stromal tumor; Pheochromocytoma; Pheochromocytoma/paraganglioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.897
- REVEL 0.91
- AlphaMissense 1.00
- MetaLR 1.00
- MetaSVM 1.08
- CADD 27.50
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Gastrointestinal stromal tumor; Pheochromocytoma; Pheochromocyto)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)