E15* (p.Glu15Ter) variant of SOX9 (Transcription factor SOX-9)
E15* (p.Glu15Ter) in SOX9 (Transcription factor SOX-9) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
E15* (p.Glu15Ter) variant details
- p.Glu15Ter
- gnomAD 17-72121434-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.823
- CADD 38.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available