V28L (p.Val28Leu) variant of SDHC (Q99643)
V28L (p.Val28Leu) 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 0.50 / 1. The record also includes published literature and structural context.
V28L (p.Val28Leu) variant details
- p.Val28Leu
- rs754818119
- ClinGen CA343360831
- ClinVar RCV001208039
- ClinVar RCV002509630
- Uncertain significance
- Gastrointestinal stromal tumor; Pheochromocytoma/paraganglioma syndrome 3; not p
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- AlphaMissense 0.13
- MetaLR 0.69
- MetaSVM 0.08
- PolyPhen-2 0.02
- SIFT 0.01
- EVE 0.29
- 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)