D50N (p.Asp50Asn) variant of SDHB (P21912)
D50N (p.Asp50Asn) in SDHB (P21912) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Gastrointestinal stromal tumor; Pheochromocytoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes published literature and structural context.
D50N (p.Asp50Asn) variant details
- p.Asp50Asn
- rs1060503765
- ClinGen CA338228001
- ClinVar RCV001229478
- ClinVar RCV001819929
- Uncertain significance
- not specified; Gastrointestinal stromal tumor; Pheochromocytoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.605
- AlphaMissense 0.14
- MetaLR 0.93
- MetaSVM 0.85
- PolyPhen-2 0.04
- SIFT 0.01
- EVE 0.20
- ClinVar: Uncertain significance (not specified; Gastrointestinal stromal tumor; Pheochromocytoma)
- 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)