T26A (p.Thr26Ala) variant of SOX2 (Transcription factor SOX-2)
T26A (p.Thr26Ala) 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 Anophthalmia/microphthalmia-esophageal atresia syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
T26A (p.Thr26Ala) variant details
- p.Thr26Ala
- rs749464287
- ClinGen CA2717238
- ClinVar RCV000734263
- ClinVar RCV002535374
- Uncertain significance
- Anophthalmia/microphthalmia-esophageal atresia syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.435
- REVEL 0.34
- MetaLR 0.55
- MetaSVM -0.32
- CADD 11.00
- PolyPhen-2 0.00
- SIFT 0.69
- ClinVar: Uncertain significance (Anophthalmia/microphthalmia-esophageal atresia syndrome; not pro)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:DRUZE population (allele frequency 0.015)
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.372
- Cited in: SOX2 Disorder. (PMID 20301477)