G20R (p.Gly20Arg) variant of SDHB (P21912)
G20R (p.Gly20Arg) 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 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
G20R (p.Gly20Arg) variant details
- p.Gly20Arg
- rs1557749649
- ClinGen CA338230656
- ClinVar RCV001371998
- ClinVar RCV002357269
- Uncertain significance
- Pheochromocytoma; Pheochromocytoma/paraganglioma syndrome 4; Gastrointestinal st
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- REVEL 0.35
- CADD 17.10
- ClinVar: Uncertain significance (Pheochromocytoma; Pheochromocytoma/paraganglioma syndrome 4; Gas)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: The UK NEQAS for Molecular Genetics scheme for gastrointestinal stromal tumour: findings and recommendations following… (PMID 22685257)