R15Q (p.Arg15Gln) variant of SDHC (Q99643)
R15Q (p.Arg15Gln) 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; Hereditary pheochromocytoma and paraganglioma; P. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
R15Q (p.Arg15Gln) variant details
- p.Arg15Gln
- rs1294873008
- ClinGen CA343359420
- ClinVar RCV000811379
- ClinVar RCV001022590
- Uncertain significance
- Gastrointestinal stromal tumor; Hereditary pheochromocytoma and paraganglioma; P
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.36
- MetaLR 0.64
- MetaSVM 0.07
- CADD 18.00
- PolyPhen-2 0.00
- SIFT 0.32
- ClinVar: Uncertain significance (Gastrointestinal stromal tumor; Hereditary pheochromocytoma and)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00031)
- 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)