K67A (p.Lys67Ala) variant of SOX10 (Transcription factor SOX-10)
K67A (p.Lys67Ala) in SOX10 (Transcription factor SOX-10) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
K67A (p.Lys67Ala) variant details
- p.Lys67Ala
- rs2145777238
- ClinGen CA2499226185
- ClinVar RCV001353099
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available