R106G (p.Arg106Gly) variant of SOX10 (Transcription factor SOX-10)
R106G (p.Arg106Gly) 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 0.98 / 1. The record also includes structural context.
R106G (p.Arg106Gly) variant details
- p.Arg106Gly
- rs1057518656
- ClinGen CA16043702
- ClinVar RCV000415328
- Ensembl rs1057518656
- Likely pathogenic
- Waardenburg syndrome type 2E
- Missense
- Variant Prioritization Score for Impact Estimate 0.977
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.98
- ClinVar: Likely pathogenic (Waardenburg syndrome type 2E)
- EBI: Likely pathogenic (in WS4C)
- UniProt: Likely pathogenic (in WS4C)
- Structural context available