H17Q (p.His17Gln) variant of SDHC (Q99643)
H17Q (p.His17Gln) in SDHC (Q99643) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Pheochromocytoma/paraganglioma syndrome 3; Gastrointestinal stromal tumor; Hered. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes published literature and structural context.
H17Q (p.His17Gln) variant details
- p.His17Gln
- rs1571843732
- ClinGen CA343359474
- ClinVar RCV001023707
- ClinVar RCV005213444
- Uncertain significance
- Pheochromocytoma/paraganglioma syndrome 3; Gastrointestinal stromal tumor; Hered
- Missense
- Variant Prioritization Score for Impact Estimate 0.595
- AlphaMissense 0.11
- MetaLR 0.77
- MetaSVM 0.54
- PolyPhen-2 0.01
- SIFT 0.36
- MutPred 0.37
- ClinVar: Uncertain significance (Pheochromocytoma/paraganglioma syndrome 3; Gastrointestinal stro)
- 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)