R96P (p.Arg96Pro) variant of SOX2 (Transcription factor SOX-2)
R96P (p.Arg96Pro) in SOX2 (Transcription factor SOX-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely 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 published literature and structural context.
R96P (p.Arg96Pro) variant details
- p.Arg96Pro
- rs1714847764
- ClinGen CA355473549
- ClinVar RCV001342057
- Ensembl rs1714847764
- Likely pathogenic
- Anophthalmia/microphthalmia-esophageal atresia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.937
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.98
- ClinVar: Likely pathogenic (Anophthalmia/microphthalmia-esophageal atresia syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: SOX2 Disorder. (PMID 20301477)