A28G (p.Ala28Gly) variant of SOX2 (Transcription factor SOX-2)
A28G (p.Ala28Gly) in SOX2 (Transcription factor SOX-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A28G (p.Ala28Gly) variant details
- p.Ala28Gly
- gnomAD rs1170252840
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- REVEL 0.30
- MetaLR 0.58
- MetaSVM -0.22
- CADD 16.80
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score 0.123