G23del (p.Gly23del) variant of SOX2 (Transcription factor SOX-2)
G23del (p.Gly23del) in SOX2 (Transcription factor SOX-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G23del (p.Gly23del) variant details
- rs1560264163
- gnomAD 3-181712417-GGGC-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.76
- CADD 20.80
- Population evidence available
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.99
- Literature evidence available