S37R (p.Ser37Arg) variant of SOX2 (Transcription factor SOX-2)
S37R (p.Ser37Arg) 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 and structural context.
S37R (p.Ser37Arg) variant details
- p.Ser37Arg
- Ensembl rs2108521555
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.489