N49S (p.Asn49Ser) variant of SDHC (Q99643)
N49S (p.Asn49Ser) in SDHC (Q99643) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Gastrointestinal stromal tumor; Pheochromocytoma/paraganglioma syndrome 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes published literature and structural context.
N49S (p.Asn49Ser) variant details
- p.Asn49Ser
- rs1571851610
- ClinGen CA343361215
- ClinVar RCV000807849
- ClinVar RCV004569647
- Uncertain significance
- Gastrointestinal stromal tumor; Pheochromocytoma/paraganglioma syndrome 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.573
- AlphaMissense 0.08
- MetaLR 0.83
- MetaSVM 0.87
- PolyPhen-2 0.07
- SIFT 0.10
- EVE 0.22
- ClinVar: Uncertain significance (Gastrointestinal stromal tumor; Pheochromocytoma/paraganglioma s)
- 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)