D50E (p.Asp50Glu) variant of SDHB (P21912)
D50E (p.Asp50Glu) 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/paraganglioma syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
D50E (p.Asp50Glu) variant details
- p.Asp50Glu
- rs1570958024
- ClinGen CA338227986
- ClinVar RCV000797389
- ClinVar RCV002388451
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Pheochromocytoma/paraganglioma syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- REVEL 0.43
- CADD 17.90
- PolyPhen-2 0.01
- SIFT 0.24
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Pheochromocytoma/paraga)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 6.3e-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)