G23V (p.Gly23Val) variant of SOX2 (Transcription factor SOX-2)
G23V (p.Gly23Val) in SOX2 (Transcription factor SOX-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Anophthalmia/microphthalmia-esophageal atresia syndrome; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G23V (p.Gly23Val) variant details
- p.Gly23Val
- rs756496221
- ClinGen CA2717236
- ClinVar RCV003516480
- ClinVar RCV004963721
- Uncertain significance
- Anophthalmia/microphthalmia-esophageal atresia syndrome; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.576
- REVEL 0.39
- MetaLR 0.79
- MetaSVM 0.51
- CADD 22.80
- PolyPhen-2 0.17
- SIFT 0.02
- ClinVar: Uncertain significance (Anophthalmia/microphthalmia-esophageal atresia syndrome; Inborn)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 6.7e-05)
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.99
- Cited in: SOX2 Disorder. (PMID 20301477)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)