T18I (p.Thr18Ile) variant of ETV6 (Transcription factor ETV6)
T18I (p.Thr18Ile) in ETV6 (Transcription factor ETV6) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
T18I (p.Thr18Ile) variant details
- p.Thr18Ile
- ExAC rs754405842
- gnomAD rs754405842
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.08
- CADD 23.60
- PolyPhen-2 0.04
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available