I30T (p.Ile30Thr) variant of PDGFRA (P16234)
I30T (p.Ile30Thr) 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 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
I30T (p.Ile30Thr) variant details
- p.Ile30Thr
- rs1437048036
- ClinGen CA356888222
- ClinVar RCV001341083
- TOPMed rs1437048036
- Uncertain significance
- Gastrointestinal stromal tumor
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- REVEL 0.37
- MetaLR 0.17
- MetaSVM -0.80
- CADD 23.30
- PolyPhen-2 0.26
- SIFT 0.00
- ClinVar: Uncertain significance (Gastrointestinal stromal tumor)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.5e-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)