T3I (p.Thr3Ile) variant of PDGFRA (P16234)
T3I (p.Thr3Ile) in PDGFRA (P16234) is a missense change. Clinical records from ClinVar 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 0.22 / 1. The record also includes population frequency data and structural context.
T3I (p.Thr3Ile) variant details
- p.Thr3Ile
- Ensembl rs2110235027
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- REVEL 0.03
- AlphaMissense 0.09
- MetaLR 0.40
- MetaSVM -0.24
- CADD 20.20
- PolyPhen-2 0.61
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available