L9P (p.Leu9Pro) variant of PDGFRA (P16234)
L9P (p.Leu9Pro) in PDGFRA (P16234) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes published literature and structural context.
L9P (p.Leu9Pro) variant details
- p.Leu9Pro
- rs1722518582
- ClinGen CA356888084
- ClinVar RCV001223933
- ClinVar RCV004944903
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Gastrointestinal stromal tumor
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- AlphaMissense 0.12
- MetaLR 0.52
- MetaSVM 0.07
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.68
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Gastrointestinal stroma)
- 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)