G41D (p.Gly41Asp) variant of SOX10 (Transcription factor SOX-10)
G41D (p.Gly41Asp) 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 0.38 / 1. The record also includes population frequency data and structural context.
G41D (p.Gly41Asp) variant details
- p.Gly41Asp
- rs199750760
- ClinGen CA411502036
- ClinVar RCV002899556
- 1000Genomes rs199750760
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.15
- CADD 21.60
- PolyPhen-2 0.11
- SIFT 0.17
- ClinVar: Uncertain significance (not provided)
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available