S27S (p.Ser27Ser) variant of SOX9 (Transcription factor SOX-9)
S27S (p.Ser27Ser) in SOX9 (Transcription factor SOX-9) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
S27S (p.Ser27Ser) variant details
- p.Ser27Ser
- rs754070157
- gnomAD 17-72121472-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.404
- CADD 15.10
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Literature evidence available