G32D (p.Gly32Asp) variant of SOX9 (Transcription factor SOX-9)
G32D (p.Gly32Asp) in SOX9 (Transcription factor SOX-9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
G32D (p.Gly32Asp) variant details
- p.Gly32Asp
- gnomAD rs1417947256
- Missense
- Variant Prioritization Score for Impact Estimate 0.517
- REVEL 0.39
- MetaLR 0.51
- MetaSVM -0.03
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.05
- Population evidence available
- Structural context available