H8Q (p.His8Gln) variant of SDHC (Q99643)
H8Q (p.His8Gln) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
H8Q (p.His8Gln) variant details
- p.His8Gln
- rs761381438
- ClinGen CA047351
- ClinVar RCV000543957
- ClinVar RCV001015761
- Uncertain significance
- Pheochromocytoma/paraganglioma syndrome 3; Gastrointestinal stromal tumor
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- REVEL 0.43
- MetaLR 0.81
- MetaSVM 0.46
- CADD 5.11
- PolyPhen-2 0.28
- SIFT 0.29
- ClinVar: Uncertain significance (Pheochromocytoma/paraganglioma syndrome 3; Gastrointestinal stro)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 2.9e-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)