M1I (p.Met1Ile) variant of SDHB (P21912)
M1I (p.Met1Ile) in SDHB (P21912) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Gastrointestinal stromal tumor; Pheochromocytoma; Pheochromocytoma/paraganglioma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs1131691061
- ClinGen CA338230889
- ClinVar RCV000492186
- ClinVar RCV000550393
- Pathogenic
- Gastrointestinal stromal tumor; Pheochromocytoma; Pheochromocytoma/paraganglioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.901
- MetaLR 0.93
- MetaSVM 1.03
- PolyPhen-2 0.53
- SIFT 0.08
- MutPred 0.99
- ClinVar: Pathogenic (Gastrointestinal stromal tumor; Pheochromocytoma; Pheochromocyto)
- EBI: Pathogenic
- UniProt: 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)