A28V (p.Ala28Val) variant of SOX2 (Transcription factor SOX-2)
A28V (p.Ala28Val) in SOX2 (Transcription factor SOX-2) is a missense change. The record also includes variant effect predictions, experimental measurements, and structural context.
A28V (p.Ala28Val) variant details
- p.Ala28Val
- gnomAD rs1170252840
- Missense
- MetaLR 0.68
- MetaSVM 0.22
- SIFT 0.11
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score 0.123