K53N (p.Lys53Asn) variant of SOX10 (Transcription factor SOX-10)
K53N (p.Lys53Asn) in SOX10 (Transcription factor SOX-10) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
K53N (p.Lys53Asn) variant details
- p.Lys53Asn
- ExAC rs778038020
- TOPMed rs778038020
- gnomAD rs778038020
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.14
- CADD 21.90
- PolyPhen-2 0.08
- SIFT 0.33
- Population evidence available
- Structural context available