R40G (p.Arg40Gly) variant of SDHC (Q99643)
R40G (p.Arg40Gly) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes published literature and structural context.
R40G (p.Arg40Gly) variant details
- p.Arg40Gly
- rs978019587
- ClinGen CA343361043
- ClinVar RCV000695000
- TOPMed rs978019587
- Uncertain significance
- Gastrointestinal stromal tumor; Pheochromocytoma/paraganglioma syndrome 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.619
- AlphaMissense 0.18
- MetaLR 0.84
- MetaSVM 0.81
- PolyPhen-2 0.01
- SIFT 0.05
- EVE 0.40
- ClinVar: Uncertain significance (Gastrointestinal stromal tumor; Pheochromocytoma/paraganglioma s)
- 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)