R98P (p.Arg98Pro) variant of SOX2 (Transcription factor SOX-2)
R98P (p.Arg98Pro) in SOX2 (Transcription factor SOX-2) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Anophthalmia/microphthalmia-esophageal atresia syndrome. The record also includes structural context.
R98P (p.Arg98Pro) variant details
- p.Arg98Pro
- Ensembl rs2108522075
- Likely pathogenic
- Anophthalmia/microphthalmia-esophageal atresia syndrome
- Missense
- ClinVar: Likely pathogenic (Anophthalmia/microphthalmia-esophageal atresia syndrome)
- UniProt: Likely pathogenic
- Structural context available