P38Q (p.Pro38Gln) variant of SOX2 (Transcription factor SOX-2)
P38Q (p.Pro38Gln) 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.
P38Q (p.Pro38Gln) variant details
- p.Pro38Gln
- Ensembl rs2108521561
- Uncertain significance
- Missense
- MetaLR 0.60
- MetaSVM -0.18
- SIFT 0.89
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.383