L7P (p.Leu7Pro) variant of SOX10 (Transcription factor SOX-10)
L7P (p.Leu7Pro) in SOX10 (Transcription factor SOX-10) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
L7P (p.Leu7Pro) variant details
- p.Leu7Pro
- TOPMed rs1175938851
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- REVEL 0.42
- CADD 23.80
- PolyPhen-2 0.00
- SIFT 0.00
- Population evidence available
- Structural context available