D64G (p.Asp64Gly) variant of SOX10 (Transcription factor SOX-10)
D64G (p.Asp64Gly) in SOX10 (Transcription factor SOX-10) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. 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.
D64G (p.Asp64Gly) variant details
- p.Asp64Gly
- ESP rs372400283
- ExAC rs372400283
- TOPMed rs372400283
- gnomAD rs372400283
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- REVEL 0.49
- CADD 23.30
- PolyPhen-2 0.03
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available