p.Gly13 Pro14del variant of SOX2 (Transcription factor SOX-2)
p.Gly13 Pro14del in SOX2 (Transcription factor SOX-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
p.Gly13 Pro14del variant details
- gnomAD 3-181712393-GCCGG
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.3
- CADD 22.10
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.147
- Literature evidence available