A63S (p.Ala63Ser) variant of SOX10 (Transcription factor SOX-10)
A63S (p.Ala63Ser) in SOX10 (Transcription factor SOX-10) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
A63S (p.Ala63Ser) variant details
- p.Ala63Ser
- gnomAD 22-37970999-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0862
- CADD 0.78
- Population evidence available
- Structural context available
- Literature evidence available