R113W (p.Arg113Trp) variant of SOX2 (Transcription factor SOX-2)
R113W (p.Arg113Trp) 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 0.89 / 1. The record also includes published literature and structural context.
R113W (p.Arg113Trp) variant details
- p.Arg113Trp
- rs1560264395
- ClinGen CA355473660
- ClinVar RCV000700513
- Ensembl rs1560264395
- Pathogenic
- Anophthalmia/microphthalmia-esophageal atresia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.89
- AlphaMissense 1.00
- MetaLR 0.88
- MetaSVM 0.89
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.98
- ClinVar: Pathogenic (Anophthalmia/microphthalmia-esophageal atresia syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: SOX2 Disorder. (PMID 20301477)