Y171S (p.Tyr171Ser) variant of SOX10 (Transcription factor SOX-10)
Y171S (p.Tyr171Ser) in SOX10 (Transcription factor SOX-10) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Waardenburg syndrome type 4C. The record also includes structural context.
Y171S (p.Tyr171Ser) variant details
- p.Tyr171Ser
- rs2518046893
- ClinGen CA411497851
- ClinVar RCV003445440
- Likely pathogenic
- Waardenburg syndrome type 4C
- Missense
- ClinVar: Likely pathogenic (Waardenburg syndrome type 4C)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available