D65N (p.Asp65Asn) variant of SOX10 (Transcription factor SOX-10)
D65N (p.Asp65Asn) 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 0.54 / 1. The record also includes population frequency data and structural context.
D65N (p.Asp65Asn) variant details
- p.Asp65Asn
- cosmic curated COSV61005
- TOPMed rs1413568253
- gnomAD rs1413568253
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.538
- REVEL 0.38
- CADD 26.20
- PolyPhen-2 0.79
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available