L3L (p.Leu3Leu) variant of SOX9 (Transcription factor SOX-9)
L3L (p.Leu3Leu) in SOX9 (Transcription factor SOX-9) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
L3L (p.Leu3Leu) variant details
- p.Leu3Leu
- rs746539387
- gnomAD 17-72121400-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.634
- CADD 14.10
- Most common in the Non-Finnish European population (allele frequency 7.4e-05)
- Structural context available
- Literature evidence available