G21G (p.Gly21Gly) variant of SOX2 (Transcription factor SOX-2)
G21G (p.Gly21Gly) in SOX2 (Transcription factor SOX-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G21G (p.Gly21Gly) variant details
- p.Gly21Gly
- rs781707393
- gnomAD 3-181712423-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.719
- CADD 15.30
- Most common in the East Asian population (allele frequency 2.6e-05)
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.997
- Literature evidence available