T16I (p.Thr16Ile) variant of PDGFRA (P16234)
T16I (p.Thr16Ile) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes published literature and structural context.
T16I (p.Thr16Ile) variant details
- p.Thr16Ile
- rs1722521033
- ClinGen CA356888125
- ClinVar RCV001216274
- Ensembl rs1722521033
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- AlphaMissense 0.13
- MetaLR 0.31
- MetaSVM -0.64
- PolyPhen-2 0.39
- SIFT 0.13
- MutPred 0.53
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- 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)