C93F (p.Cys93Phe) variant of SDHB (P21912)
C93F (p.Cys93Phe) in SDHB (P21912) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Gastrointestinal stromal tumor; Pheochromocytoma; Pheochromocytoma/paraganglioma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
C93F (p.Cys93Phe) variant details
- p.Cys93Phe
- rs1131691054
- ClinGen CA338276410
- ClinVar RCV000492433
- ClinVar RCV005213304
- Conflicting interpretations
- Gastrointestinal stromal tumor; Pheochromocytoma; Pheochromocytoma/paraganglioma
- 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: Conflicting classifications of pathogenicity (Gastrointestinal stromal tumor; Pheochromocytoma; Pheochromocyto)
- 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)