S18K (p.Ser18Lys) variant of SOX2 (Transcription factor SOX-2)
S18K (p.Ser18Lys) in SOX2 (Transcription factor SOX-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Anophthalmia/microphthalmia-esophageal atresia syndrome. The record also includes experimental measurements, published literature, and structural context.
S18K (p.Ser18Lys) variant details
- p.Ser18Lys
- rs2473716820
- ClinGen CA2580069106
- ClinVar RCV002590076
- ClinVar RCV003228092
- Conflicting interpretations
- not provided; Anophthalmia/microphthalmia-esophageal atresia syndrome
- Missense
- ClinVar: Conflicting classifications of pathogenicity (not provided; Anophthalmia/microphthalmia-esophageal atresia syn)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.004
- Cited in: SOX2 Disorder. (PMID 20301477)