p.Gly23dup variant of SOX2 (Transcription factor SOX-2)
p.Gly23dup 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.
p.Gly23dup variant details
- rs1560264163
- gnomAD 3-181712417-G-GGG
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.763
- CADD 21.20
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.99
- Literature evidence available