L9F (p.Leu9Phe) variant of SDHB (P21912)
L9F (p.Leu9Phe) in SDHB (P21912) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Pheochromocytoma; Gastrointestinal stromal tumor; Pheochromocytoma/paraganglioma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes published literature and structural context.
L9F (p.Leu9Phe) variant details
- p.Leu9Phe
- rs2101551820
- ClinGen CA338230839
- ClinVar RCV002009689
- ClinVar RCV004947035
- Uncertain significance
- Pheochromocytoma; Gastrointestinal stromal tumor; Pheochromocytoma/paraganglioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.62
- AlphaMissense 0.07
- MetaLR 0.86
- MetaSVM 0.67
- PolyPhen-2 0.00
- SIFT 0.24
- MutPred 0.27
- ClinVar: Uncertain significance (Pheochromocytoma; Gastrointestinal stromal tumor; 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)