p.Asn24 Gly31del variant of SOX2 (Transcription factor SOX-2)
p.Asn24 Gly31del in SOX2 (Transcription factor SOX-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
p.Asn24 Gly31del variant details
- gnomAD 3-181712425-GCGGC
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.712
- CADD 20.80
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.386
- Literature evidence available