D5Y (p.Asp5Tyr) variant of SOX9 (Transcription factor SOX-9)
D5Y (p.Asp5Tyr) in SOX9 (Transcription factor SOX-9) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
D5Y (p.Asp5Tyr) variant details
- p.Asp5Tyr
- TOPMed rs1908084450
- gnomAD rs1908084450
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.862
- REVEL 0.87
- MetaLR 0.96
- MetaSVM 1.11
- CADD 31.00
- PolyPhen-2 0.99
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available