G19G (p.Gly19Gly) variant of SOX2 (Transcription factor SOX-2)
G19G (p.Gly19Gly) 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.
G19G (p.Gly19Gly) variant details
- p.Gly19Gly
- rs1270908140
- gnomAD 3-181712417-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.701
- CADD 13.80
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.258
- Literature evidence available