G19R (p.Gly19Arg) variant of SOX2 (Transcription factor SOX-2)
G19R (p.Gly19Arg) in SOX2 (Transcription factor SOX-2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Anophthalmia/microphthalmia-esophageal atresia syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G19R (p.Gly19Arg) variant details
- p.Gly19Arg
- ExAC rs752089700
- gnomAD rs752089700
- Uncertain significance
- Anophthalmia/microphthalmia-esophageal atresia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.546
- REVEL 0.34
- MetaLR 0.80
- MetaSVM 0.44
- CADD 23.00
- PolyPhen-2 0.01
- SIFT 0.13
- ClinVar: Uncertain significance (Anophthalmia/microphthalmia-esophageal atresia syndrome)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.258