p.Ser25 Asn33del variant of SOX2 (Transcription factor SOX-2)
p.Ser25 Asn33del 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.Ser25 Asn33del variant details
- gnomAD 3-181712422-GCGGC
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.763
- CADD 21.10
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.559
- Literature evidence available