G23R (p.Gly23Arg) variant of SOX2 (Transcription factor SOX-2)
G23R (p.Gly23Arg) in SOX2 (Transcription factor SOX-2) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes experimental measurements, published literature, and structural context.
G23R (p.Gly23Arg) variant details
- p.Gly23Arg
- rs1560264167
- ClinVar RCV004577418
- ClinVar RCV004787134
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.99
- Cited in: SOX2 Disorder. (PMID 20301477)