C71G (p.Cys71Gly) variant of SOX10 (Transcription factor SOX-10)
C71G (p.Cys71Gly) in SOX10 (Transcription factor SOX-10) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Waardenburg syndrome type 4C; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
C71G (p.Cys71Gly) variant details
- p.Cys71Gly
- rs200683397
- ClinGen CA10228708
- ClinVar RCV000214833
- ClinVar RCV000660274
- Uncertain significance
- Waardenburg syndrome type 4C; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- REVEL 0.43
- CADD 23.00
- PolyPhen-2 0.26
- SIFT 0.48
- ClinVar: Uncertain significance (Waardenburg syndrome type 4C; not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available