S19S (p.Ser19Ser) variant of SOX9 (Transcription factor SOX-9)
S19S (p.Ser19Ser) in SOX9 (Transcription factor SOX-9) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
S19S (p.Ser19Ser) variant details
- p.Ser19Ser
- rs2143236601
- gnomAD 17-72121448-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.254
- CADD 13.60
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available