T7R (p.Thr7Arg) variant of SOX2 (Transcription factor SOX-2)
T7R (p.Thr7Arg) in SOX2 (Transcription factor SOX-2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions, experimental measurements, and structural context.
T7R (p.Thr7Arg) variant details
- p.Thr7Arg
- TOPMed rs1714834018
- Uncertain significance
- Missense
- MetaLR 0.93
- MetaSVM 1.05
- SIFT 0.04
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.16