S4A (p.Ser4Ala) variant of PDGFRA (P16234)
S4A (p.Ser4Ala) 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 record also includes published literature and structural context.
S4A (p.Ser4Ala) variant details
- p.Ser4Ala
- rs2475411858
- ClinGen CA356888055
- ClinVar RCV002796567
- Uncertain significance
- Gastrointestinal stromal tumor
- Missense
- 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)