R159Q (p.Arg159Gln) variant of SOX10 (Transcription factor SOX-10)
R159Q (p.Arg159Gln) 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 4C. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data and structural context.
R159Q (p.Arg159Gln) variant details
- p.Arg159Gln
- Ensembl rs2145768559
- Pathogenic
- Waardenburg syndrome type 4C
- Missense
- Variant Prioritization Score for Impact Estimate 0.891
- REVEL 0.92
- MetaLR 0.94
- MetaSVM 1.10
- CADD 29.90
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (Waardenburg syndrome type 4C)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available