E28E (p.Glu28Glu) variant of SOX9 (Transcription factor SOX-9)
E28E (p.Glu28Glu) in SOX9 (Transcription factor SOX-9) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
E28E (p.Glu28Glu) variant details
- p.Glu28Glu
- rs1908088301
- gnomAD 17-72121475-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.375
- CADD 13.10
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available