R21S (p.Arg21Ser) variant of SOX10 (Transcription factor SOX-10)
R21S (p.Arg21Ser) in SOX10 (Transcription factor SOX-10) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
R21S (p.Arg21Ser) variant details
- p.Arg21Ser
- TOPMed rs1161833735
- gnomAD rs1161833735
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.16
- CADD 22.30
- PolyPhen-2 0.11
- SIFT 0.09
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available