L13F (p.Leu13Phe) variant of SDHB (P21912)
L13F (p.Leu13Phe) 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/paraganglioma syndrome 4; Pheoc. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes published literature and structural context.
L13F (p.Leu13Phe) variant details
- p.Leu13Phe
- rs201745731
- ClinGen CA10581755
- ClinVar RCV000227644
- TOPMed rs201745731
- Uncertain significance
- Gastrointestinal stromal tumor; Pheochromocytoma/paraganglioma syndrome 4; Pheoc
- Missense
- Variant Prioritization Score for Impact Estimate 0.578
- AlphaMissense 0.06
- MetaLR 0.79
- MetaSVM 0.29
- PolyPhen-2 0.00
- SIFT 0.57
- MutPred 0.27
- ClinVar: Uncertain significance (Gastrointestinal stromal tumor; Pheochromocytoma/paraganglioma s)
- 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)