P22P (p.Pro22Pro) variant of SOX9 (Transcription factor SOX-9)
P22P (p.Pro22Pro) in SOX9 (Transcription factor SOX-9) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
P22P (p.Pro22Pro) variant details
- p.Pro22Pro
- rs2143236710
- gnomAD 17-72121457-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.369
- CADD 15.50
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available