T4I (p.Thr4Ile) variant of ETV6 (Transcription factor ETV6)
T4I (p.Thr4Ile) in ETV6 (Transcription factor ETV6) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign 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.
T4I (p.Thr4Ile) variant details
- p.Thr4Ile
- ExAC rs777712463
- gnomAD rs777712463
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.11
- CADD 21.70
- PolyPhen-2 0.01
- SIFT 0.10
- ClinVar: Likely benign (Inborn genetic diseases)
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 0.00014)
- Structural context available