R161C (p.Arg161Cys) variant of SOX10 (Transcription factor SOX-10)
R161C (p.Arg161Cys) in SOX10 (Transcription factor SOX-10) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of PCWH syndrome; Waardenburg syndrome type 4C; Waardenburg syndrome type 2E. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
R161C (p.Arg161Cys) variant details
- p.Arg161Cys
- rs2145768544
- ClinGen CA411497985
- cosmic curated COSV10745
- ClinVar RCV001909314
- Pathogenic/Likely pathogenic
- PCWH syndrome; Waardenburg syndrome type 4C; Waardenburg syndrome type 2E
- Missense
- Variant Prioritization Score for Impact Estimate 0.971
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.97
- ClinVar: Pathogenic/Likely pathogenic (PCWH syndrome; Waardenburg syndrome type 4C; Waardenburg syndrom)
- EBI: Pathogenic (found in a patient with Kallmann syndrome)
- UniProt: Pathogenic (found in a patient with Kallmann syndrome)
- Structural context available
- Cited in: The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in… (PMID 25077900)