S135R (p.Ser135Arg) variant of SOX10 (Transcription factor SOX-10)
S135R (p.Ser135Arg) in SOX10 (Transcription factor SOX-10) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Waardenburg syndrome type 2E. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
S135R (p.Ser135Arg) variant details
- p.Ser135Arg
- rs1555939415
- ClinGen CA411500124
- ClinVar RCV000626402
- Ensembl rs1555939415
- Pathogenic
- Waardenburg syndrome type 2E
- Missense
- Variant Prioritization Score for Impact Estimate 0.851
- REVEL 0.92
- AlphaMissense 1.00
- MetaLR 0.94
- MetaSVM 1.09
- CADD 27.90
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Waardenburg syndrome type 2E)
- EBI: Likely pathogenic (in WS2E)
- UniProt: Likely pathogenic (in WS2E)
- Population evidence available
- Structural context available