G21R (p.Gly21Arg) variant of SOX2 (Transcription factor SOX-2)
G21R (p.Gly21Arg) in SOX2 (Transcription factor SOX-2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G21R (p.Gly21Arg) variant details
- p.Gly21Arg
- rs398122803
- gnomAD 3-181712413-C-CG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.842
- CADD 29.90
- Population evidence available
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.997
- Cited in: A novel heterozygous SOX2 mutation causing anophthalmia/microphthalmia with genital anomalies. (PMID 19254784)