N36N (p.Asn36Asn) variant of SOX2 (Transcription factor SOX-2)
N36N (p.Asn36Asn) in SOX2 (Transcription factor SOX-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
N36N (p.Asn36Asn) variant details
- p.Asn36Asn
- rs548425389
- gnomAD 3-181712468-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.715
- CADD 14.40
- Most common in the 1KG:MSL population (allele frequency 0.0063)
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.279
- Literature evidence available