E8Q (p.Glu8Gln) variant of SOX2 (Transcription factor SOX-2)
E8Q (p.Glu8Gln) 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 variant effect predictions, experimental measurements, and structural context.
E8Q (p.Glu8Gln) variant details
- p.Glu8Gln
- gnomAD rs1208628241
- Likely pathogenic
- Missense
- MetaLR 0.81
- MetaSVM 0.50
- SIFT 0.03
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.113