A28A (p.Ala28Ala) variant of SOX2 (Transcription factor SOX-2)
A28A (p.Ala28Ala) 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.
A28A (p.Ala28Ala) variant details
- p.Ala28Ala
- rs779097787
- gnomAD 3-181712444-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.71
- CADD 14.60
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score 0.123
- Literature evidence available