T16P (p.Thr16Pro) variant of SDHB (P21912)
T16P (p.Thr16Pro) 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 0.60 / 1. The record also includes published literature and structural context.
T16P (p.Thr16Pro) variant details
- p.Thr16Pro
- rs1433760506
- ClinGen CA338230711
- ClinVar RCV000544948
- ClinVar RCV006287201
- Uncertain significance
- Gastrointestinal stromal tumor; Pheochromocytoma; Pheochromocytoma/paraganglioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.596
- AlphaMissense 0.08
- MetaLR 0.84
- MetaSVM 0.49
- PolyPhen-2 0.00
- SIFT 0.20
- MutPred 0.46
- ClinVar: Uncertain significance (Gastrointestinal stromal tumor; Pheochromocytoma; Pheochromocyto)
- EBI: Likely benign
- UniProt: Likely benign
- 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)