E15del (p.Glu15del) variant of SOX9 (Transcription factor SOX-9)
E15del (p.Glu15del) in SOX9 (Transcription factor SOX-9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
E15del (p.Glu15del) variant details
- rs756571117
- gnomAD 17-72121431-CAGG-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.705
- CADD 22.50
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available