D5D (p.Asp5Asp) variant of SOX9 (Transcription factor SOX-9)
D5D (p.Asp5Asp) in SOX9 (Transcription factor SOX-9) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
D5D (p.Asp5Asp) variant details
- p.Asp5Asp
- rs768210143
- gnomAD 17-72121406-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.546
- CADD 14.60
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available
- Literature evidence available