F48S (p.Phe48Ser) variant of SOX2 (Transcription factor SOX-2)
F48S (p.Phe48Ser) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes experimental measurements, published literature, and structural context.
F48S (p.Phe48Ser) variant details
- p.Phe48Ser
- rs1714843059
- ClinGen CA355473215
- ClinVar RCV001218665
- Ensembl rs1714843059
- Likely pathogenic
- Anophthalmia/microphthalmia-esophageal atresia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.966
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.98
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.99
- 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)