M1V (p.Met1Val) variant of SDHC (Q99643)
M1V (p.Met1Val) in SDHC (Q99643) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Gastrointestinal stromal tumor; Pheochromocytoma/paraganglioma syndrome 3; Hered. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs755235380
- ClinGen CA046289
- ClinVar RCV000467345
- ClinVar RCV000492170
- Pathogenic
- Gastrointestinal stromal tumor; Pheochromocytoma/paraganglioma syndrome 3; Hered
- Missense
- Variant Prioritization Score for Impact Estimate 0.83
- MetaLR 0.90
- MetaSVM 1.03
- PolyPhen-2 0.04
- SIFT 0.00
- MutPred 0.98
- ClinVar: Pathogenic (Gastrointestinal stromal tumor; Pheochromocytoma/paraganglioma s)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- 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)