S30F (p.Ser30Phe) variant of SOX9 (Transcription factor SOX-9)
S30F (p.Ser30Phe) in SOX9 (Transcription factor SOX-9) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
S30F (p.Ser30Phe) variant details
- p.Ser30Phe
- TOPMed rs1003847603
- gnomAD rs1003847603
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.608
- REVEL 0.55
- MetaLR 0.66
- MetaSVM 0.52
- CADD 28.50
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available