L18L (p.Leu18Leu) variant of SOX9 (Transcription factor SOX-9)
L18L (p.Leu18Leu) in SOX9 (Transcription factor SOX-9) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
L18L (p.Leu18Leu) variant details
- p.Leu18Leu
- rs1351767351
- gnomAD 17-72121445-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.532
- CADD 13.70
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available
- Literature evidence available