G28A (p.Gly28Ala) variant of SDHB (P21912)
G28A (p.Gly28Ala) in SDHB (P21912) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary pheochromocytoma and paraganglioma; Pheochromocytoma; Pheochromocytom. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
G28A (p.Gly28Ala) variant details
- p.Gly28Ala
- rs2101541615
- ClinGen CA338228397
- ClinVar RCV002434904
- ClinVar RCV003776499
- Uncertain significance
- Hereditary pheochromocytoma and paraganglioma; Pheochromocytoma; Pheochromocytom
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.36
- AlphaMissense 0.07
- MetaLR 0.78
- MetaSVM -0.06
- CADD 12.70
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (Hereditary pheochromocytoma and paraganglioma; Pheochromocytoma;)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 7.2e-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)