R7K (p.Arg7Lys) variant of SDHC (Q99643)
R7K (p.Arg7Lys) in SDHC (Q99643) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Pheochromocytoma/paraganglioma syndrome 3; Gastrointestinal stromal tumor; Hered. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes published literature and structural context.
R7K (p.Arg7Lys) variant details
- p.Arg7Lys
- rs2102271857
- ClinGen CA343355022
- ClinVar RCV002044863
- ClinVar RCV004656677
- Likely pathogenic
- Pheochromocytoma/paraganglioma syndrome 3; Gastrointestinal stromal tumor; Hered
- Missense
- Variant Prioritization Score for Impact Estimate 0.68
- AlphaMissense 0.45
- MetaLR 0.79
- MetaSVM 0.55
- PolyPhen-2 0.00
- SIFT 0.13
- MutPred 0.59
- ClinVar: Likely pathogenic (Pheochromocytoma/paraganglioma syndrome 3; Gastrointestinal stro)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)