p.Leu18 Ser19insCysArg variant of SOX9 (Transcription factor SOX-9)
p.Leu18 Ser19insCysArg in SOX9 (Transcription factor SOX-9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
p.Leu18 Ser19insCysArg variant details
- gnomAD 17-72121445-G-GTG
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.598
- CADD 21.60
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available