G10A (p.Gly10Ala) variant of SDHC (Q99643)
G10A (p.Gly10Ala) 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; not p. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes published literature and structural context.
G10A (p.Gly10Ala) variant details
- p.Gly10Ala
- rs1670923061
- ClinGen CA343359309
- ClinVar RCV001308663
- ClinVar RCV003313212
- Uncertain significance
- Gastrointestinal stromal tumor; Pheochromocytoma/paraganglioma syndrome 3; not p
- Missense
- Variant Prioritization Score for Impact Estimate 0.622
- AlphaMissense 0.13
- MetaLR 0.79
- MetaSVM 0.65
- PolyPhen-2 0.06
- SIFT 0.60
- MutPred 0.37
- 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)