R48S (p.Arg48Ser) variant of PDGFRA (P16234)
R48S (p.Arg48Ser) 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 0.29 / 1. The record also includes published literature and structural context.
R48S (p.Arg48Ser) variant details
- p.Arg48Ser
- rs1553902375
- ClinGen CA356888337
- ClinVar RCV000633805
- TOPMed rs1553902375
- Uncertain significance
- Gastrointestinal stromal tumor
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- AlphaMissense 0.53
- MetaLR 0.02
- MetaSVM -0.95
- PolyPhen-2 0.00
- SIFT 0.21
- MutPred 0.34
- ClinVar: Uncertain significance (Gastrointestinal stromal tumor)
- EBI: Likely benign
- UniProt: Likely benign
- 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)