D5N (p.Asp5Asn) variant of SOX9 (Transcription factor SOX-9)
D5N (p.Asp5Asn) in SOX9 (Transcription factor SOX-9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
D5N (p.Asp5Asn) variant details
- p.Asp5Asn
- TOPMed rs1908084450
- gnomAD rs1908084450
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.725
- REVEL 0.61
- MetaLR 0.95
- MetaSVM 1.10
- CADD 31.00
- PolyPhen-2 0.98
- SIFT 0.03
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available