L97P (p.Leu97Pro) variant of SOX2 (Transcription factor SOX-2)
L97P (p.Leu97Pro) 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 0.95 / 1. The record also includes published literature and structural context.
L97P (p.Leu97Pro) variant details
- p.Leu97Pro
- rs104893802
- ClinGen CA256562
- ClinVar RCV000013665
- Ensembl rs104893802
- Pathogenic
- Anophthalmia/microphthalmia-esophageal atresia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.948
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.05
- PolyPhen-2 0.99
- SIFT 0.02
- EVE 0.99
- ClinVar: Pathogenic (Anophthalmia/microphthalmia-esophageal atresia syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: SOX2 anophthalmia syndrome. (PMID 15812812)
- Cited in: Molecular links among the causative genes for ocular malformation: Otx2 and Sox2 coregulate Rax expression. (PMID 18385377)