P22A (p.Pro22Ala) variant of SOX9 (Transcription factor SOX-9)
P22A (p.Pro22Ala) in SOX9 (Transcription factor SOX-9) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
P22A (p.Pro22Ala) variant details
- p.Pro22Ala
- gnomAD 17-72121454-CCCCA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.453
- CADD 32.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available