P175S (p.Pro175Ser) variant of SOX10 (Transcription factor SOX-10)
P175S (p.Pro175Ser) 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 SOX10-related disorder; Waardenburg syndrome type 2E; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
P175S (p.Pro175Ser) variant details
- p.Pro175Ser
- rs1555938395
- ClinGen CA411497800
- ClinVar RCV000623200
- ClinVar RCV001290177
- Pathogenic/Likely pathogenic
- SOX10-related disorder; Waardenburg syndrome type 2E; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.904
- AlphaMissense 1.00
- MetaLR 0.92
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.98
- ClinVar: Pathogenic/Likely pathogenic (SOX10-related disorder; Waardenburg syndrome type 2E; not provid)
- EBI: Pathogenic (in PCWH)
- UniProt: Pathogenic (in PCWH)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)