S19A (p.Ser19Ala) variant of SOX9 (Transcription factor SOX-9)
S19A (p.Ser19Ala) 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 0.66 / 1. The record also includes population frequency data and structural context.
S19A (p.Ser19Ala) variant details
- p.Ser19Ala
- TOPMed rs1908086972
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.658
- REVEL 0.60
- MetaLR 0.95
- MetaSVM 1.08
- CADD 25.10
- PolyPhen-2 0.93
- SIFT 0.01
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available