F48V (p.Phe48Val) variant of SOX2 (Transcription factor SOX-2)
F48V (p.Phe48Val) in SOX2 (Transcription factor SOX-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Anophthalmia/microphthalmia-esophageal atresia syndrome. The record also includes experimental measurements, published literature, and structural context.
F48V (p.Phe48Val) variant details
- p.Phe48Val
- rs2473717249
- ClinGen CA355473213
- ClinVar RCV003985205
- Likely pathogenic
- Anophthalmia/microphthalmia-esophageal atresia syndrome
- Missense
- ClinVar: Likely pathogenic (Anophthalmia/microphthalmia-esophageal atresia syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.729
- Cited in: SOX2 Disorder. (PMID 20301477)