L54C (p.Leu54Cys) variant of UNC13D (Protein unc-13 homolog D)
L54C (p.Leu54Cys) in UNC13D (Protein unc-13 homolog D) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
L54C (p.Leu54Cys) variant details
- p.Leu54Cys
- rs1363960054
- ClinGen CA627596929
- ClinVar RCV003604963
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available