G36S (p.Gly36Ser) variant of SOX10 (Transcription factor SOX-10)
G36S (p.Gly36Ser) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
G36S (p.Gly36Ser) variant details
- p.Gly36Ser
- rs770004606
- ClinGen CA10228729
- ClinVar RCV003061605
- ExAC rs770004606
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- REVEL 0.32
- CADD 20.70
- PolyPhen-2 1.00
- SIFT 0.34
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available