A29T (p.Ala29Thr) variant of SOX2 (Transcription factor SOX-2)
A29T (p.Ala29Thr) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A29T (p.Ala29Thr) variant details
- p.Ala29Thr
- rs1470195221
- ClinGen CA355473085
- ClinVar RCV002716434
- gnomAD rs1470195221
- Uncertain significance
- Anophthalmia/microphthalmia-esophageal atresia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.503
- REVEL 0.27
- MetaLR 0.69
- MetaSVM 0.38
- CADD 22.80
- PolyPhen-2 0.02
- SIFT 0.33
- ClinVar: Uncertain significance (Anophthalmia/microphthalmia-esophageal atresia syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.941
- Cited in: SOX2 Disorder. (PMID 20301477)