S135G (p.Ser135Gly) variant of SOX10 (Transcription factor SOX-10)
S135G (p.Ser135Gly) in SOX10 (Transcription factor SOX-10) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Waardenburg syndrome type 2E. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
S135G (p.Ser135Gly) variant details
- p.Ser135Gly
- rs1555939415
- ClinGen CA411500122
- ClinVar RCV001004070
- Ensembl rs1555939415
- Likely pathogenic
- Waardenburg syndrome type 2E
- Missense
- Variant Prioritization Score for Impact Estimate 0.961
- AlphaMissense 1.00
- MetaLR 0.94
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.98
- ClinVar: Likely pathogenic (Waardenburg syndrome type 2E)
- EBI: Likely pathogenic (found in a patient with Kallmann syndrome)
- UniProt: Likely 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)