H8N (p.His8Asn) variant of SDHC (Q99643)
H8N (p.His8Asn) in SDHC (Q99643) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Gastrointestinal stromal tumor; Pheochromocytoma/paraganglioma syn. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
H8N (p.His8Asn) variant details
- p.His8Asn
- rs746666691
- ClinGen CA046587
- ClinVar RCV002045911
- ClinVar RCV002458994
- Uncertain significance
- not provided; Gastrointestinal stromal tumor; Pheochromocytoma/paraganglioma syn
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- REVEL 0.30
- AlphaMissense 0.08
- MetaLR 0.78
- MetaSVM 0.54
- CADD 12.30
- PolyPhen-2 0.24
- ClinVar: Uncertain significance (not provided; Gastrointestinal stromal tumor; Pheochromocytoma/p)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- 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)