R74P (p.Arg74Pro) variant of SOX2 (Transcription factor SOX-2)
R74P (p.Arg74Pro) 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 0.93 / 1. The record also includes published literature and structural context.
R74P (p.Arg74Pro) variant details
- p.Arg74Pro
- rs104893805
- ClinGen CA256571
- ClinVar RCV000013669
- UniProt VAR 075628
- Pathogenic
- Anophthalmia/microphthalmia-esophageal atresia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.933
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 0.92
- SIFT 0.00
- EVE 0.98
- ClinVar: Pathogenic (Anophthalmia/microphthalmia-esophageal atresia syndrome)
- EBI: Pathogenic (in MCOPS3)
- UniProt: Pathogenic (in MCOPS3)
- Structural context available
- Cited in: Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome. (PMID 16543359)
- Cited in: Molecular links among the causative genes for ocular malformation: Otx2 and Sox2 coregulate Rax expression. (PMID 18385377)