R10K (p.Arg10Lys) variant of SDHB (P21912)
R10K (p.Arg10Lys) in SDHB (P21912) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Gastrointestinal stromal tumor; Hereditary pheochromocytoma and paraganglioma; H. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes published literature and structural context.
R10K (p.Arg10Lys) variant details
- p.Arg10Lys
- rs1570963545
- ClinGen CA338230835
- ClinVar RCV001017896
- ClinVar RCV001873304
- Conflicting interpretations
- Gastrointestinal stromal tumor; Hereditary pheochromocytoma and paraganglioma; H
- Missense
- Variant Prioritization Score for Impact Estimate 0.597
- AlphaMissense 0.14
- MetaLR 0.79
- MetaSVM 0.38
- PolyPhen-2 0.00
- SIFT 0.30
- MutPred 0.36
- ClinVar: Conflicting classifications of pathogenicity (Gastrointestinal stromal tumor; Hereditary pheochromocytoma and)
- EBI: Likely benign
- UniProt: Likely benign
- 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)