C192S (p.Cys192Ser) variant of SDHB (P21912)
C192S (p.Cys192Ser) in SDHB (P21912) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Pheochromocytoma/paraganglioma syndrome 4; Pheochromocytoma; Gastrointestinal st. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes published literature and structural context.
C192S (p.Cys192Ser) variant details
- p.Cys192Ser
- rs397516835
- ClinGen CA015991
- ClinVar RCV000037722
- ClinVar RCV002513483
- Conflicting interpretations
- Pheochromocytoma/paraganglioma syndrome 4; Pheochromocytoma; Gastrointestinal st
- Missense
- Variant Prioritization Score for Impact Estimate 0.994
- AlphaMissense 1.00
- MetaLR 1.00
- MetaSVM 1.33
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.99
- ClinVar: Conflicting classifications of pathogenicity (Pheochromocytoma/paraganglioma syndrome 4; Pheochromocytoma; Gas)
- EBI: Pathogenic (in PPGL4)
- UniProt: Pathogenic (in PPGL4)
- 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)