R50H (p.Arg50His) variant of SDHC (Q99643)
R50H (p.Arg50His) in SDHC (Q99643) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary pheochromocytoma and paraganglioma; Gastrointestinal stromal tumor; P. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
R50H (p.Arg50His) variant details
- p.Arg50His
- rs769177037
- ClinGen CA045812
- cosmic curated COSV61370
- ClinVar RCV000794964
- Uncertain significance
- Hereditary pheochromocytoma and paraganglioma; Gastrointestinal stromal tumor; P
- Missense
- Variant Prioritization Score for Impact Estimate 0.871
- REVEL 0.94
- MetaLR 0.98
- MetaSVM 1.07
- CADD 22.70
- PolyPhen-2 0.38
- SIFT 0.06
- ClinVar: Uncertain significance (Hereditary pheochromocytoma and paraganglioma; Gastrointestinal)
- 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)