S17L (p.Ser17Leu) variant of SOX10 (Transcription factor SOX-10)
S17L (p.Ser17Leu) in SOX10 (Transcription factor SOX-10) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
S17L (p.Ser17Leu) variant details
- p.Ser17Leu
- NCI-TCGA TCGA novel
- Ensembl rs1064795391
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.59
- REVEL 0.47
- CADD 27.20
- PolyPhen-2 0.74
- SIFT 0.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available