P6P (p.Pro6Pro) variant of SOX9 (Transcription factor SOX-9)
P6P (p.Pro6Pro) in SOX9 (Transcription factor SOX-9) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
P6P (p.Pro6Pro) variant details
- p.Pro6Pro
- rs780889240
- gnomAD 17-72121409-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.491
- CADD 15.10
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Literature evidence available