S100N (p.Ser100Asn) variant of SOX10 (Transcription factor SOX-10)
S100N (p.Ser100Asn) in SOX10 (Transcription factor SOX-10) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
S100N (p.Ser100Asn) variant details
- p.Ser100Asn
- ESP rs374038201
- ExAC rs374038201
- TOPMed rs374038201
- gnomAD rs374038201
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- REVEL 0.27
- CADD 16.60
- PolyPhen-2 0.01
- SIFT 1.00
- Population evidence available
- Structural context available