L9M (p.Leu9Met) variant of SDHB (P21912)
L9M (p.Leu9Met) in SDHB (P21912) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Pheochromocytoma; Pheochromocytoma/paraganglioma syndrome 4; Gastrointestinal st. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
L9M (p.Leu9Met) variant details
- p.Leu9Met
- rs1060503768
- ClinGen CA338230842
- ClinVar RCV003048571
- Uncertain significance
- Pheochromocytoma; Pheochromocytoma/paraganglioma syndrome 4; Gastrointestinal st
- Missense
- Variant Prioritization Score for Impact Estimate 0.535
- REVEL 0.55
- AlphaMissense 0.07
- MetaLR 0.85
- MetaSVM 0.66
- CADD 23.30
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (Pheochromocytoma; Pheochromocytoma/paraganglioma syndrome 4; Gas)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)