T31I (p.Thr31Ile) variant of SDHB (P21912)
T31I (p.Thr31Ile) in SDHB (P21912) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Gastrointestinal stromal tumor; Pheochromocytoma; Pheochromocytoma/paraganglioma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes published literature and structural context.
T31I (p.Thr31Ile) variant details
- p.Thr31Ile
- rs1553178750
- ClinGen CA338228350
- ClinVar RCV000537949
- ClinVar RCV002377034
- Uncertain significance
- Gastrointestinal stromal tumor; Pheochromocytoma; Pheochromocytoma/paraganglioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.649
- AlphaMissense 0.19
- MetaLR 0.86
- MetaSVM 0.66
- PolyPhen-2 0.02
- SIFT 0.11
- MutPred 0.37
- ClinVar: Uncertain significance (Gastrointestinal stromal tumor; Pheochromocytoma; Pheochromocyto)
- 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)