A27A (p.Ala27Ala) variant of SOX2 (Transcription factor SOX-2)
A27A (p.Ala27Ala) in SOX2 (Transcription factor SOX-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A27A (p.Ala27Ala) variant details
- p.Ala27Ala
- gnomAD 3-181712441-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.698
- CADD 13.20
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.163
- Literature evidence available