R11H (p.Arg11His) variant of SDHC (Q99643)
R11H (p.Arg11His) 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; Hered. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
R11H (p.Arg11His) variant details
- p.Arg11His
- rs767802663
- ClinGen CA047588
- ClinVar RCV000233939
- ClinVar RCV001762528
- Uncertain significance
- Gastrointestinal stromal tumor; Pheochromocytoma/paraganglioma syndrome 3; Hered
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- REVEL 0.52
- MetaLR 0.85
- MetaSVM 0.84
- CADD 18.80
- PolyPhen-2 0.06
- SIFT 0.25
- ClinVar: Uncertain significance (Gastrointestinal stromal tumor; Pheochromocytoma/paraganglioma s)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00031)
- 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)