Q21* (p.Gln21Ter) variant of SDHC (Q99643)
Q21* (p.Gln21Ter) in SDHC (Q99643) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
Q21* (p.Gln21Ter) variant details
- p.Gln21Ter
- rs1553261768
- ClinGen CA343359555
- ClinVar RCV003802140
- TOPMed rs1553261768
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.687
- CADD 43.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- 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)