M1I (p.Met1Ile) variant of SDHC (Q99643)
M1I (p.Met1Ile) 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 0.85 / 1. The record also includes published literature and structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs587776652
- ClinGen CA016312
- ClinVar RCV000007663
- ClinVar RCV000812224
- Uncertain significance
- Gastrointestinal stromal tumor; Pheochromocytoma/paraganglioma syndrome 3; not p
- Missense
- Variant Prioritization Score for Impact Estimate 0.848
- MetaLR 0.92
- MetaSVM 1.07
- PolyPhen-2 0.04
- SIFT 0.00
- MutPred 0.98
- ClinVar: Uncertain significance (Gastrointestinal stromal tumor; Pheochromocytoma/paraganglioma s)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Autosomal dominant malignant and catecholamine-producing paraganglioma caused by a splice donor site mutation in SDHC. (PMID 12658451)
- Cited in: The UK NEQAS for Molecular Genetics scheme for gastrointestinal stromal tumour: findings and recommendations following… (PMID 22685257)