E6G (p.Glu6Gly) variant of SOX2 (Transcription factor SOX-2)
E6G (p.Glu6Gly) in SOX2 (Transcription factor SOX-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, experimental measurements, and structural context.
E6G (p.Glu6Gly) variant details
- p.Glu6Gly
- Ensembl rs2108521289
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.797
- REVEL 0.78
- MetaLR 0.92
- MetaSVM 1.01
- CADD 28.30
- PolyPhen-2 0.63
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.841