S30Y (p.Ser30Tyr) variant of SOX9 (Transcription factor SOX-9)
S30Y (p.Ser30Tyr) in SOX9 (Transcription factor SOX-9) is a missense change. 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.
S30Y (p.Ser30Tyr) variant details
- p.Ser30Tyr
- TOPMed rs1003847603
- gnomAD rs1003847603
- Missense
- Variant Prioritization Score for Impact Estimate 0.606
- REVEL 0.54
- MetaLR 0.66
- MetaSVM 0.52
- CADD 27.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available