S30S (p.Ser30Ser) variant of SOX9 (Transcription factor SOX-9)
S30S (p.Ser30Ser) in SOX9 (Transcription factor SOX-9) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
S30S (p.Ser30Ser) variant details
- p.Ser30Ser
- rs2143236932
- gnomAD 17-72121481-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.448
- CADD 10.70
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available