C22Y (p.Cys22Tyr) variant of SOX10 (Transcription factor SOX-10)
C22Y (p.Cys22Tyr) in SOX10 (Transcription factor SOX-10) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
C22Y (p.Cys22Tyr) variant details
- p.Cys22Tyr
- Ensembl rs1932478699
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- REVEL 0.20
- CADD 23.30
- PolyPhen-2 0.10
- SIFT 0.00
- Population evidence available
- Structural context available