G149A (p.Gly149Ala) variant of UNC13D (Protein unc-13 homolog D)
G149A (p.Gly149Ala) 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 population frequency data and structural context.
G149A (p.Gly149Ala) variant details
- p.Gly149Ala
- rs2064956872
- ClinGen CA502050608
- ClinVar RCV003050492
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available