P169R (p.Pro169Arg) variant of SOX10 (Transcription factor SOX-10)
P169R (p.Pro169Arg) 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 record also includes published literature and structural context.
P169R (p.Pro169Arg) variant details
- p.Pro169Arg
- rs397515369
- ClinGen CA118778
- ClinVar RCV000007832
- Pathogenic
- Waardenburg syndrome type 4C
- Missense
- ClinVar: Pathogenic (Waardenburg syndrome type 4C)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: SOX10 mutation in Waardenburg syndrome type II. (PMID 18627047)