G22S (p.Gly22Ser) variant of SOX2 (Transcription factor SOX-2)
G22S (p.Gly22Ser) in SOX2 (Transcription factor SOX-2) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G22S (p.Gly22Ser) variant details
- p.Gly22Ser
- ExAC rs727504169
- TOPMed rs727504169
- gnomAD rs727504169
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- REVEL 0.26
- MetaLR 0.68
- MetaSVM -0.12
- CADD 22.00
- PolyPhen-2 0.00
- SIFT 0.30
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Ashkenazi Jewish population (allele frequency 0.0035)
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.219