A30V (p.Ala30Val) variant of SOX2 (Transcription factor SOX-2)
A30V (p.Ala30Val) in SOX2 (Transcription factor SOX-2) is a missense change. The record also includes variant effect predictions, experimental measurements, and structural context.
A30V (p.Ala30Val) variant details
- p.Ala30Val
- Ensembl rs2108521503
- Missense
- MetaLR 0.76
- MetaSVM 0.12
- SIFT 0.23
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.508