D6E (p.Asp6Glu) variant of SOX10 (Transcription factor SOX-10)
D6E (p.Asp6Glu) in SOX10 (Transcription factor SOX-10) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
D6E (p.Asp6Glu) variant details
- p.Asp6Glu
- 1000Genomes rs149435516
- ESP rs149435516
- ExAC rs149435516
- gnomAD rs149435516
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.33
- CADD 21.00
- PolyPhen-2 0.00
- SIFT 0.10
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available