P6L (p.Pro6Leu) variant of SOX9 (Transcription factor SOX-9)
P6L (p.Pro6Leu) in SOX9 (Transcription factor SOX-9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
P6L (p.Pro6Leu) variant details
- p.Pro6Leu
- Ensembl rs2143236201
- Missense
- Variant Prioritization Score for Impact Estimate 0.844
- REVEL 0.85
- MetaLR 0.96
- MetaSVM 1.11
- CADD 28.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available