Q21E (p.Gln21Glu) variant of SDHC (Q99643)
Q21E (p.Gln21Glu) 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 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
Q21E (p.Gln21Glu) variant details
- p.Gln21Glu
- rs1553261768
- ClinGen CA343359552
- ClinVar RCV000560999
- ClinVar RCV000641909
- Uncertain significance
- Gastrointestinal stromal tumor; Pheochromocytoma/paraganglioma syndrome 3; Hered
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- REVEL 0.34
- MetaLR 0.72
- MetaSVM 0.56
- CADD 17.80
- PolyPhen-2 0.01
- SIFT 0.24
- ClinVar: Uncertain significance (Gastrointestinal stromal tumor; Pheochromocytoma/paraganglioma s)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- 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)