E15E (p.Glu15Glu) variant of SOX9 (Transcription factor SOX-9)
E15E (p.Glu15Glu) in SOX9 (Transcription factor SOX-9) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
E15E (p.Glu15Glu) variant details
- p.Glu15Glu
- rs2143236487
- gnomAD 17-72121436-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.299
- CADD 14.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available