V70L (p.Val70Leu) variant of SOX10 (Transcription factor SOX-10)
V70L (p.Val70Leu) in SOX10 (Transcription factor SOX-10) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
V70L (p.Val70Leu) variant details
- p.Val70Leu
- ExAC rs765329363
- TOPMed rs765329363
- gnomAD rs765329363
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- REVEL 0.19
- CADD 23.00
- PolyPhen-2 0.09
- SIFT 0.06
- Population evidence available
- Structural context available