D66E (p.Asp66Glu) variant of SOX10 (Transcription factor SOX-10)
D66E (p.Asp66Glu) 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 0.27 / 1. The record also includes population frequency data and structural context.
D66E (p.Asp66Glu) variant details
- p.Asp66Glu
- TOPMed rs1422539913
- gnomAD rs1422539913
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.14
- CADD 17.20
- PolyPhen-2 0.02
- SIFT 0.40
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available