P112L (p.Pro112Leu) variant of SOX2 (Transcription factor SOX-2)
P112L (p.Pro112Leu) in SOX2 (Transcription factor SOX-2) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic/likely pathogenic in the context of Anophthalmia/microphthalmia-esophageal atresia syndrome; Inborn genetic diseases. The record also includes structural context.
P112L (p.Pro112Leu) variant details
- p.Pro112Leu
- Ensembl rs2108522206
- Pathogenic/Likely pathogenic
- Anophthalmia/microphthalmia-esophageal atresia syndrome; Inborn genetic diseases
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Anophthalmia/microphthalmia-esophageal atresia syndrome; Inborn)
- UniProt: Likely pathogenic
- Structural context available