A40T (p.Ala40Thr) variant of ETV6 (Transcription factor ETV6)
A40T (p.Ala40Thr) 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 record also includes variant effect predictions and structural context.
A40T (p.Ala40Thr) variant details
- p.Ala40Thr
- Ensembl rs930627928
- Uncertain significance
- Inborn genetic diseases
- Missense
- MetaLR 0.04
- MetaSVM -1.04
- SIFT 0.48
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Structural context available