A31A (p.Ala31Ala) variant of SOX9 (Transcription factor SOX-9)
A31A (p.Ala31Ala) in SOX9 (Transcription factor SOX-9) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
A31A (p.Ala31Ala) variant details
- p.Ala31Ala
- rs1488790677
- gnomAD 17-72121484-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.171
- CADD 12.80
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available