G17E (p.Gly17Glu) variant of PDGFRA (P16234)
G17E (p.Gly17Glu) 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 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
G17E (p.Gly17Glu) variant details
- p.Gly17Glu
- rs766600687
- ClinGen CA356888143
- cosmic curated COSV57277
- ClinVar RCV001958100
- Uncertain significance
- Gastrointestinal stromal tumor
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.18
- MetaLR 0.34
- MetaSVM -0.49
- CADD 22.60
- PolyPhen-2 0.01
- SIFT 0.02
- ClinVar: Uncertain significance (Gastrointestinal stromal tumor)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 1.7e-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)