C13F (p.Cys13Phe) variant of SDHC (Q99643)
C13F (p.Cys13Phe) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
C13F (p.Cys13Phe) variant details
- p.Cys13Phe
- rs1558164528
- ClinGen CA343359375
- ClinVar RCV000694826
- Ensembl rs1558164528
- Uncertain significance
- Gastrointestinal stromal tumor; Pheochromocytoma/paraganglioma syndrome 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.732
- REVEL 0.85
- AlphaMissense 0.09
- MetaLR 0.88
- MetaSVM 0.99
- CADD 24.10
- PolyPhen-2 0.99
- ClinVar: Uncertain significance (Gastrointestinal stromal tumor; Pheochromocytoma/paraganglioma s)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00041)
- 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)