G19E (p.Gly19Glu) variant of SOX2 (Transcription factor SOX-2)
G19E (p.Gly19Glu) 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 0.66 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G19E (p.Gly19Glu) variant details
- p.Gly19Glu
- gnomAD rs1227940600
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.656
- REVEL 0.51
- MetaLR 0.82
- MetaSVM 0.73
- CADD 22.70
- PolyPhen-2 0.38
- SIFT 0.14
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.258