W142R (p.Trp142Arg) variant of SOX10 (Transcription factor SOX-10)
W142R (p.Trp142Arg) 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 Rare genetic deafness; Waardenburg syndrome type 2E. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes structural context.
W142R (p.Trp142Arg) variant details
- p.Trp142Arg
- rs1555939408
- ClinGen CA411500003
- ClinVar RCV000615378
- ClinVar RCV001290172
- Pathogenic/Likely pathogenic
- Rare genetic deafness; Waardenburg syndrome type 2E
- Missense
- Variant Prioritization Score for Impact Estimate 0.975
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.98
- ClinVar: Pathogenic/Likely pathogenic (Rare genetic deafness; Waardenburg syndrome type 2E)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available