R56G (p.Arg56Gly) variant of SOX2 (Transcription factor SOX-2)
R56G (p.Arg56Gly) 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 0.96 / 1. The record also includes experimental measurements, published literature, and structural context.
R56G (p.Arg56Gly) variant details
- p.Arg56Gly
- rs1560264293
- ClinGen CA355473268
- ClinVar RCV001267861
- Ensembl rs1560264293
- Pathogenic
- Anophthalmia/microphthalmia-esophageal atresia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.963
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.04
- 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 -0.394
- Cited in: SOX2 Disorder. (PMID 20301477)