G23S (p.Gly23Ser) variant of SOX2 (Transcription factor SOX-2)
G23S (p.Gly23Ser) in SOX2 (Transcription factor SOX-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G23S (p.Gly23Ser) variant details
- p.Gly23Ser
- TOPMed rs1205978762
- gnomAD rs1205978762
- Missense
- Variant Prioritization Score for Impact Estimate 0.497
- REVEL 0.30
- MetaLR 0.72
- MetaSVM 0.03
- CADD 21.00
- PolyPhen-2 0.04
- SIFT 0.11
- Most common in the East Asian population (allele frequency 0.0002)
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.99