G32R (p.Gly32Arg) variant of SOX9 (Transcription factor SOX-9)
G32R (p.Gly32Arg) in SOX9 (Transcription factor SOX-9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
G32R (p.Gly32Arg) variant details
- p.Gly32Arg
- TOPMed rs1196498041
- gnomAD rs1196498041
- Missense
- Variant Prioritization Score for Impact Estimate 0.624
- REVEL 0.50
- MetaLR 0.65
- MetaSVM 0.47
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.02
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available