D48N (p.Asp48Asn) variant of SDHB (P21912)
D48N (p.Asp48Asn) in SDHB (P21912) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Pheochromocytoma/paraganglioma syndrome 4; Gastrointestinal stromal tumor; Pheoc. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes published literature and structural context.
D48N (p.Asp48Asn) variant details
- p.Asp48Asn
- rs2078100198
- ClinGen CA338228044
- ClinVar RCV001049021
- Ensembl rs2078100198
- Uncertain significance
- Pheochromocytoma/paraganglioma syndrome 4; Gastrointestinal stromal tumor; Pheoc
- Missense
- Variant Prioritization Score for Impact Estimate 0.524
- AlphaMissense 0.12
- MetaLR 0.81
- MetaSVM 0.45
- PolyPhen-2 0.00
- SIFT 1.00
- EVE 0.07
- ClinVar: Uncertain significance (Pheochromocytoma/paraganglioma syndrome 4; Gastrointestinal stro)
- EBI: Variant of uncertain significance (in MC2DN4)
- UniProt: Uncertain significance (in MC2DN4)
- 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)