N46K (p.Asn46Lys) variant of SOX2 (Transcription factor SOX-2)
N46K (p.Asn46Lys) in SOX2 (Transcription factor SOX-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Anophthalmia/microphthalmia-esophageal atresia syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes experimental measurements, published literature, and structural context.
N46K (p.Asn46Lys) variant details
- p.Asn46Lys
- rs104893806
- ClinGen CA256574
- ClinVar RCV000013670
- Ensembl rs104893806
- Pathogenic
- Anophthalmia/microphthalmia-esophageal atresia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.936
- AlphaMissense 1.00
- MetaLR 0.94
- MetaSVM 0.91
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.99
- ClinVar: Pathogenic (Anophthalmia/microphthalmia-esophageal atresia syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.852
- Cited in: Recurrence of SOX2 anophthalmia syndrome with gonosomal mosaicism in a phenotypically normal mother. (PMID 16470798)
- Cited in: SOX2 Disorder. (PMID 20301477)