F42L (p.Phe42Leu) variant of SDHB (P21912)
F42L (p.Phe42Leu) 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 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
F42L (p.Phe42Leu) variant details
- p.Phe42Leu
- rs2101541516
- ClinGen CA338228166
- ClinVar RCV002015328
- ClinVar RCV003303599
- Uncertain significance
- Pheochromocytoma; Pheochromocytoma/paraganglioma syndrome 4; Gastrointestinal st
- Missense
- Variant Prioritization Score for Impact Estimate 0.759
- REVEL 0.90
- AlphaMissense 0.98
- MetaLR 0.91
- MetaSVM 1.04
- CADD 28.50
- PolyPhen-2 0.64
- ClinVar: Uncertain significance (Pheochromocytoma; Pheochromocytoma/paraganglioma syndrome 4; Gas)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)