P48L (p.Pro48Leu) variant of SOX10 (Transcription factor SOX-10)
P48L (p.Pro48Leu) in SOX10 (Transcription factor SOX-10) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
P48L (p.Pro48Leu) variant details
- p.Pro48Leu
- gnomAD rs1244786630
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.14
- CADD 18.70
- PolyPhen-2 0.00
- SIFT 0.18
- Population evidence available
- Structural context available