R21G (p.Arg21Gly) variant of SOX10 (Transcription factor SOX-10)
R21G (p.Arg21Gly) 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 Inborn genetic diseases; not provided. 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.
R21G (p.Arg21Gly) variant details
- p.Arg21Gly
- TOPMed rs1161833735
- gnomAD rs1161833735
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.16
- CADD 23.50
- PolyPhen-2 0.15
- SIFT 0.07
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available