S19C (p.Ser19Cys) variant of SOX9 (Transcription factor SOX-9)
S19C (p.Ser19Cys) in SOX9 (Transcription factor SOX-9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
S19C (p.Ser19Cys) variant details
- p.Ser19Cys
- gnomAD 17-72121447-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.764
- REVEL 0.69
- MetaLR 0.96
- MetaSVM 1.10
- CADD 28.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available