N33N (p.Asn33Asn) variant of SOX2 (Transcription factor SOX-2)
N33N (p.Asn33Asn) in SOX2 (Transcription factor SOX-2) is a synonymous 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.
N33N (p.Asn33Asn) variant details
- p.Asn33Asn
- rs776620962
- gnomAD 3-181712459-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.712
- CADD 14.00
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.477
- Literature evidence available