R12Q (p.Arg12Gln) variant of SDHB (P21912)
R12Q (p.Arg12Gln) in SDHB (P21912) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; not provided; Pheochromocytoma/paragang. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
R12Q (p.Arg12Gln) variant details
- p.Arg12Gln
- rs1293365726
- ClinGen CA338230821
- ClinVar RCV001050705
- ClinVar RCV002451208
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided; Pheochromocytoma/paragang
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.36
- CADD 14.20
- PolyPhen-2 0.01
- SIFT 0.62
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided; Pheochrom)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- 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)