H754P (p.His754Pro) variant of UNC13D (Protein unc-13 homolog D)
H754P (p.His754Pro) in UNC13D (Protein unc-13 homolog D) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Autoinflammatory syndrome. The record also includes structural context.
H754P (p.His754Pro) variant details
- p.His754Pro
- rs1446115570
- ClinGen CA401088116
- ClinVar RCV002264555
- gnomAD rs1446115570
- Likely pathogenic
- Autoinflammatory syndrome
- Missense
- ClinVar: Likely pathogenic (Autoinflammatory syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available