P91A (p.Pro91Ala) variant of SOX10 (Transcription factor SOX-10)
P91A (p.Pro91Ala) in SOX10 (Transcription factor SOX-10) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes structural context.
P91A (p.Pro91Ala) variant details
- p.Pro91Ala
- rs483353057
- ClinGen CA156408
- ClinVar RCV000119814
- Likely pathogenic
- Missense
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available