G23D (p.Gly23Asp) variant of SOX2 (Transcription factor SOX-2)
G23D (p.Gly23Asp) in SOX2 (Transcription factor SOX-2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G23D (p.Gly23Asp) variant details
- p.Gly23Asp
- ExAC rs756496221
- TOPMed rs756496221
- gnomAD rs756496221
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- REVEL 0.31
- MetaLR 0.80
- MetaSVM 0.29
- CADD 22.80
- PolyPhen-2 0.00
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.99