R43G (p.Arg43Gly) variant of SOX2 (Transcription factor SOX-2)
R43G (p.Arg43Gly) in SOX2 (Transcription factor SOX-2) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes experimental measurements and structural context.
R43G (p.Arg43Gly) variant details
- p.Arg43Gly
- ExAC rs765982831
- gnomAD rs765982831
- Likely pathogenic
- Missense
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.352