K53Q (p.Lys53Gln) variant of SOX10 (Transcription factor SOX-10)
K53Q (p.Lys53Gln) in SOX10 (Transcription factor SOX-10) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
K53Q (p.Lys53Gln) variant details
- p.Lys53Gln
- Ensembl rs2145777456
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- REVEL 0.19
- CADD 22.10
- PolyPhen-2 0.01
- SIFT 0.48
- Population evidence available
- Structural context available