G20G (p.Gly20Gly) variant of SOX2 (Transcription factor SOX-2)
G20G (p.Gly20Gly) in SOX2 (Transcription factor SOX-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G20G (p.Gly20Gly) variant details
- p.Gly20Gly
- gnomAD 3-181712420-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.24
- CADD 14.70
- Most common in the Latino/Admixed American population (allele frequency 2.4e-05)
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.155
- Literature evidence available