V94A (p.Val94Ala) variant of SOX10 (Transcription factor SOX-10)
V94A (p.Val94Ala) in SOX10 (Transcription factor SOX-10) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
V94A (p.Val94Ala) variant details
- p.Val94Ala
- rs1451564399
- ClinGen CA411501131
- ClinVar RCV002838390
- TOPMed rs1451564399
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.537
- REVEL 0.49
- CADD 24.30
- PolyPhen-2 0.67
- SIFT 0.02
- ClinVar: Benign (not provided)
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available