N109S (p.Asn109Ser) variant of SOX10 (Transcription factor SOX-10)
N109S (p.Asn109Ser) 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 2E. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes structural context.
N109S (p.Asn109Ser) variant details
- p.Asn109Ser
- rs1932464388
- ClinGen CA411500640
- ClinVar RCV001290168
- Ensembl rs1932464388
- Pathogenic
- Waardenburg syndrome type 2E
- Missense
- Variant Prioritization Score for Impact Estimate 0.88
- AlphaMissense 1.00
- MetaLR 0.85
- MetaSVM 0.80
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.98
- ClinVar: Pathogenic (Waardenburg syndrome type 2E)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available