G52E (p.Gly52Glu) variant of SOX10 (Transcription factor SOX-10)
G52E (p.Gly52Glu) in SOX10 (Transcription factor SOX-10) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
G52E (p.Gly52Glu) variant details
- p.Gly52Glu
- gnomAD 22-37971004-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.14
- CADD 3.71
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available