L51I (p.Leu51Ile) variant of SOX10 (Transcription factor SOX-10)
L51I (p.Leu51Ile) in SOX10 (Transcription factor SOX-10) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
L51I (p.Leu51Ile) variant details
- p.Leu51Ile
- gnomAD 22-37970987-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.181
- CADD 1.43
- Population evidence available
- Structural context available
- Literature evidence available