R40Q (p.Arg40Gln) variant of SDHC (Q99643)
R40Q (p.Arg40Gln) in SDHC (Q99643) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Gastrointestinal stromal tumor; Pheochromocytoma/paraganglioma syndrome 3; Hered. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
R40Q (p.Arg40Gln) variant details
- p.Arg40Gln
- rs772450693
- ClinGen CA045699
- ClinVar RCV000226923
- ClinVar RCV000568226
- Conflicting interpretations
- Gastrointestinal stromal tumor; Pheochromocytoma/paraganglioma syndrome 3; Hered
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.25
- MetaLR 0.50
- MetaSVM -0.53
- CADD 19.90
- PolyPhen-2 0.00
- SIFT 0.36
- ClinVar: Conflicting classifications of pathogenicity (Gastrointestinal stromal tumor; Pheochromocytoma/paraganglioma s)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- 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)