E19G (p.Glu19Gly) variant of SOX10 (Transcription factor SOX-10)
E19G (p.Glu19Gly) in SOX10 (Transcription factor SOX-10) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
E19G (p.Glu19Gly) variant details
- p.Glu19Gly
- TOPMed rs1334869588
- gnomAD rs1334869588
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- REVEL 0.27
- CADD 23.10
- PolyPhen-2 0.02
- SIFT 0.04
- Population evidence available
- Structural context available