E13D (p.Glu13Asp) variant of SOX9 (Transcription factor SOX-9)
E13D (p.Glu13Asp) in SOX9 (Transcription factor SOX-9) is a missense change. 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.
E13D (p.Glu13Asp) variant details
- p.Glu13Asp
- TOPMed rs1172992469
- gnomAD rs1172992469
- Missense
- Variant Prioritization Score for Impact Estimate 0.656
- REVEL 0.50
- MetaLR 0.94
- MetaSVM 1.03
- CADD 26.50
- PolyPhen-2 0.96
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available