D54N (p.Asp54Asn) variant of SDHB (P21912)
D54N (p.Asp54Asn) 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 0.59 / 1. The record also includes published literature and structural context.
D54N (p.Asp54Asn) variant details
- p.Asp54Asn
- rs1570957997
- ClinGen CA338227932
- ClinVar RCV001012407
- ClinVar RCV001860707
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Pheochromocytoma/paraganglioma syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.594
- AlphaMissense 0.12
- MetaLR 0.87
- MetaSVM 0.82
- PolyPhen-2 0.42
- SIFT 0.15
- EVE 0.12
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Pheochromocytoma/paraga)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)