C23Y (p.Cys23Tyr) variant of SDHC (Q99643)
C23Y (p.Cys23Tyr) in SDHC (Q99643) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Gastrointestinal stromal tumor; Pheochromocytoma/paraganglioma syndrome 3; Hered. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
C23Y (p.Cys23Tyr) variant details
- p.Cys23Tyr
- rs2526333046
- ClinGen CA343359599
- ClinVar RCV003380143
- ClinVar RCV003778129
- Uncertain significance
- Gastrointestinal stromal tumor; Pheochromocytoma/paraganglioma syndrome 3; Hered
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.34
- MetaLR 0.83
- MetaSVM 0.54
- CADD 14.20
- PolyPhen-2 0.36
- SIFT 0.38
- ClinVar: Uncertain significance (Gastrointestinal stromal tumor; Pheochromocytoma/paraganglioma s)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- 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)