Q59K (p.Gln59Lys) variant of SOX10 (Transcription factor SOX-10)
Q59K (p.Gln59Lys) in SOX10 (Transcription factor SOX-10) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
Q59K (p.Gln59Lys) variant details
- p.Gln59Lys
- gnomAD rs1367116894
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.15
- CADD 17.90
- PolyPhen-2 0.01
- SIFT 0.90
- Population evidence available
- Structural context available