D12E (p.Asp12Glu) variant of SOX9 (Transcription factor SOX-9)
D12E (p.Asp12Glu) in SOX9 (Transcription factor SOX-9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
D12E (p.Asp12Glu) variant details
- p.Asp12Glu
- Ensembl rs1908085553
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- REVEL 0.41
- MetaLR 0.61
- MetaSVM -0.12
- CADD 16.90
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available