R10G (p.Arg10Gly) variant of SDHB (P21912)
R10G (p.Arg10Gly) in SDHB (P21912) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Pheochromocytoma; Pheochromocytoma/paraganglioma syndrome 4; Gastrointestinal st. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
R10G (p.Arg10Gly) variant details
- p.Arg10Gly
- rs2101551815
- ClinGen CA338230837
- ClinVar RCV003066681
- ClinVar RCV005724917
- Uncertain significance
- Pheochromocytoma; Pheochromocytoma/paraganglioma syndrome 4; Gastrointestinal st
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- REVEL 0.48
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.15
- ClinVar: Uncertain significance (Pheochromocytoma; Pheochromocytoma/paraganglioma syndrome 4; Gas)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)