G22G (p.Gly22Gly) variant of SOX2 (Transcription factor SOX-2)
G22G (p.Gly22Gly) in SOX2 (Transcription factor SOX-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G22G (p.Gly22Gly) variant details
- p.Gly22Gly
- rs2108521440
- gnomAD 3-181712426-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.618
- CADD 14.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.219
- Literature evidence available