S135N (p.Ser135Asn) variant of SOX10 (Transcription factor SOX-10)
S135N (p.Ser135Asn) 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 Waardenburg syndrome type 4C; PCWH syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes structural context.
S135N (p.Ser135Asn) variant details
- p.Ser135Asn
- rs74315515
- ClinGen CA411500121
- ClinVar RCV001007915
- ClinVar RCV001262264
- Pathogenic/Likely pathogenic
- Waardenburg syndrome type 4C; PCWH syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.953
- AlphaMissense 1.00
- MetaLR 0.92
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.98
- ClinVar: Pathogenic/Likely pathogenic (Waardenburg syndrome type 4C; PCWH syndrome; not provided)
- EBI: Pathogenic (in WS2E)
- UniProt: Pathogenic (in WS2E)
- Structural context available