Q14Q (p.Gln14Gln) variant of SOX9 (Transcription factor SOX-9)
Q14Q (p.Gln14Gln) in SOX9 (Transcription factor SOX-9) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
Q14Q (p.Gln14Gln) variant details
- p.Gln14Gln
- rs769605571
- gnomAD 17-72121433-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.471
- CADD 13.50
- Most common in the REMAINING population (allele frequency 0.0024)
- Structural context available
- Literature evidence available