R21C (p.Arg21Cys) variant of SOX10 (Transcription factor SOX-10)
R21C (p.Arg21Cys) 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 0.42 / 1. The record also includes population frequency data and structural context.
R21C (p.Arg21Cys) variant details
- p.Arg21Cys
- TOPMed rs1161833735
- gnomAD rs1161833735
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- REVEL 0.22
- CADD 24.00
- PolyPhen-2 0.00
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available