S40L (p.Ser40Leu) variant of SOX10 (Transcription factor SOX-10)
S40L (p.Ser40Leu) in SOX10 (Transcription factor SOX-10) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
S40L (p.Ser40Leu) variant details
- p.Ser40Leu
- cosmic curated COSV10942
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.22
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.05
- Population evidence available
- Structural context available