P24V (p.Pro24Val) variant of SOX9 (Transcription factor SOX-9)
P24V (p.Pro24Val) in SOX9 (Transcription factor SOX-9) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
P24V (p.Pro24Val) variant details
- p.Pro24Val
- gnomAD 17-72121459-GCCCC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.781
- CADD 32.00
- Population evidence available
- Structural context available
- Literature evidence available