T26I (p.Thr26Ile) variant of SOX2 (Transcription factor SOX-2)
T26I (p.Thr26Ile) in SOX2 (Transcription factor SOX-2) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of Inborn genetic diseases. 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.
T26I (p.Thr26Ile) variant details
- p.Thr26Ile
- 1000Genomes rs771158394
- ExAC rs771158394
- TOPMed rs771158394
- gnomAD rs771158394
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.497
- REVEL 0.31
- MetaLR 0.71
- MetaSVM 0.12
- CADD 17.60
- PolyPhen-2 0.03
- SIFT 0.12
- ClinVar: Likely benign (Inborn genetic diseases)
- UniProt: Likely benign
- Most common in the 1KG:CHS population (allele frequency 0.0049)
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.372