S98R (p.Ser98Arg) variant of SOX10 (Transcription factor SOX-10)
S98R (p.Ser98Arg) 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 0.64 / 1. The record also includes population frequency data and structural context.
S98R (p.Ser98Arg) variant details
- p.Ser98Arg
- rs2518052482
- ClinGen CA411500992
- ClinVar RCV003055612
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.643
- REVEL 0.60
- CADD 22.70
- PolyPhen-2 0.28
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available