R10S (p.Arg10Ser) variant of SDHB (P21912)
R10S (p.Arg10Ser) 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; Pheochromocytoma; Gastrointestinal stro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
R10S (p.Arg10Ser) variant details
- p.Arg10Ser
- rs1024111417
- ClinGen CA18612443
- ClinVar RCV001890192
- ClinVar RCV003355603
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Pheochromocytoma; Gastrointestinal stro
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- REVEL 0.44
- CADD 12.70
- PolyPhen-2 0.00
- SIFT 0.30
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Pheochromocytoma; Gastr)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)