Y110S (p.Tyr110Ser) variant of SOX2 (Transcription factor SOX-2)
Y110S (p.Tyr110Ser) in SOX2 (Transcription factor SOX-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Anophthalmia/microphthalmia-esophageal atresia syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
Y110S (p.Tyr110Ser) variant details
- p.Tyr110Ser
- rs2108522189
- ClinGen CA355473646
- ClinVar RCV002274418
- Ensembl rs2108522189
- Pathogenic
- Anophthalmia/microphthalmia-esophageal atresia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.933
- AlphaMissense 1.00
- MetaLR 0.89
- MetaSVM 1.01
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.93
- ClinVar: Pathogenic (Anophthalmia/microphthalmia-esophageal atresia syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: SOX2 Disorder. (PMID 20301477)