P24L (p.Pro24Leu) variant of SOX9 (Transcription factor SOX-9)
P24L (p.Pro24Leu) in SOX9 (Transcription factor SOX-9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
P24L (p.Pro24Leu) variant details
- p.Pro24Leu
- Ensembl rs2143236766
- Missense
- Variant Prioritization Score for Impact Estimate 0.651
- REVEL 0.54
- MetaLR 0.71
- MetaSVM 0.61
- CADD 27.80
- PolyPhen-2 0.68
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available