D64N (p.Asp64Asn) variant of SOX10 (Transcription factor SOX-10)
D64N (p.Asp64Asn) in SOX10 (Transcription factor SOX-10) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
D64N (p.Asp64Asn) variant details
- p.Asp64Asn
- TOPMed rs1371901048
- gnomAD rs1371901048
- Missense
- Variant Prioritization Score for Impact Estimate 0.561
- REVEL 0.46
- CADD 22.90
- PolyPhen-2 0.14
- SIFT 0.03
- Population evidence available
- Structural context available