N3del (p.Asn3del) variant of SOX2 (Transcription factor SOX-2)
N3del (p.Asn3del) in SOX2 (Transcription factor SOX-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
N3del (p.Asn3del) variant details
- gnomAD 3-181712364-TACA-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.645
- CADD 20.80
- Population evidence available
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.667
- Literature evidence available