D65H (p.Asp65His) variant of SOX10 (Transcription factor SOX-10)
D65H (p.Asp65His) in SOX10 (Transcription factor SOX-10) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
D65H (p.Asp65His) variant details
- p.Asp65His
- TOPMed rs1413568253
- gnomAD rs1413568253
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.611
- REVEL 0.50
- CADD 25.90
- PolyPhen-2 0.91
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available