L15F (p.Leu15Phe) variant of PDGFRA (P16234)
L15F (p.Leu15Phe) in PDGFRA (P16234) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Gastrointestinal stromal tumor. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes published literature and structural context.
L15F (p.Leu15Phe) variant details
- p.Leu15Phe
- rs1577701660
- ClinGen CA356888117
- ClinVar RCV000802248
- TOPMed rs1577701660
- Uncertain significance
- Gastrointestinal stromal tumor
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- AlphaMissense 0.06
- MetaLR 0.39
- MetaSVM -0.39
- PolyPhen-2 0.54
- SIFT 0.12
- MutPred 0.55
- ClinVar: Uncertain significance (Gastrointestinal stromal tumor)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)