H12L (p.His12Leu) variant of SDHC (Q99643)
H12L (p.His12Leu) in SDHC (Q99643) 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 0.57 / 1. The record also includes published literature and structural context.
H12L (p.His12Leu) variant details
- p.His12Leu
- rs1670923933
- ClinGen CA343359345
- ClinVar RCV002751546
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Pheochromocytoma/paraganglioma syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.566
- AlphaMissense 0.07
- MetaLR 0.76
- MetaSVM 0.28
- PolyPhen-2 0.00
- SIFT 0.50
- MutPred 0.35
- 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)