Q5E (p.Gln5Glu) variant of SOX10 (Transcription factor SOX-10)
Q5E (p.Gln5Glu) in SOX10 (Transcription factor SOX-10) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of SOX10-related disorder. 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.
Q5E (p.Gln5Glu) variant details
- p.Gln5Glu
- rs2518053075
- ClinGen CA411502512
- ClinVar RCV004531941
- Uncertain significance
- SOX10-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.562
- REVEL 0.47
- CADD 23.00
- PolyPhen-2 0.04
- SIFT 0.01
- ClinVar: Uncertain significance (SOX10-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available