E18Q (p.Glu18Gln) variant of SOX10 (Transcription factor SOX-10)
E18Q (p.Glu18Gln) in SOX10 (Transcription factor SOX-10) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
E18Q (p.Glu18Gln) variant details
- p.Glu18Gln
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- REVEL 0.33
- CADD 23.30
- PolyPhen-2 0.30
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available