A44V (p.Ala44Val) variant of SOX10 (Transcription factor SOX-10)
A44V (p.Ala44Val) 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 0.32 / 1. The record also includes population frequency data and structural context.
A44V (p.Ala44Val) variant details
- p.Ala44Val
- 1000Genomes rs747377284
- ExAC rs747377284
- TOPMed rs747377284
- gnomAD rs747377284
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.20
- CADD 21.70
- PolyPhen-2 0.06
- SIFT 0.23
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available