G20A (p.Gly20Ala) variant of SOX2 (Transcription factor SOX-2)
G20A (p.Gly20Ala) in SOX2 (Transcription factor SOX-2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G20A (p.Gly20Ala) variant details
- p.Gly20Ala
- rs398122803
- gnomAD 3-181712413-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.812
- CADD 26.30
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.155
- Cited in: A novel heterozygous SOX2 mutation causing anophthalmia/microphthalmia with genital anomalies. (PMID 19254784)