L18F (p.Leu18Phe) variant of SDHB (P21912)
L18F (p.Leu18Phe) in SDHB (P21912) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Gastrointestinal stromal tumor; Pheochr. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
L18F (p.Leu18Phe) variant details
- p.Leu18Phe
- rs2101551686
- ClinGen CA338230679
- ClinVar RCV001370070
- ClinVar RCV004951632
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Gastrointestinal stromal tumor; Pheochr
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- REVEL 0.28
- CADD 0.32
- PolyPhen-2 0.01
- SIFT 0.61
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Gastrointestinal stroma)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- 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)