T3S (p.Thr3Ser) variant of PDGFRA (P16234)
T3S (p.Thr3Ser) 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 0.43 / 1. The record also includes published literature and structural context.
T3S (p.Thr3Ser) variant details
- p.Thr3Ser
- rs2110235027
- ClinGen CA356888052
- ClinVar RCV002376342
- ClinVar RCV003103551
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Gastrointestinal stromal tumor
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- AlphaMissense 0.09
- MetaLR 0.40
- MetaSVM -0.24
- PolyPhen-2 0.61
- SIFT 0.01
- MutPred 0.28
- 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)