S19P (p.Ser19Pro) variant of SOX9 (Transcription factor SOX-9)
S19P (p.Ser19Pro) in SOX9 (Transcription factor SOX-9) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
S19P (p.Ser19Pro) variant details
- p.Ser19Pro
- TOPMed rs1908086972
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.722
- REVEL 0.69
- MetaLR 0.95
- MetaSVM 1.09
- CADD 31.00
- PolyPhen-2 0.98
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available