D60N (p.Asp60Asn) variant of SOX10 (Transcription factor SOX-10)
D60N (p.Asp60Asn) in SOX10 (Transcription factor SOX-10) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
D60N (p.Asp60Asn) variant details
- p.Asp60Asn
- rs1439127307
- ClinGen CA411501749
- ClinVar RCV001761359
- TOPMed rs1439127307
- Conflicting interpretations
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.584
- REVEL 0.48
- CADD 23.80
- PolyPhen-2 0.38
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available