Q78E (p.Gln78Glu) variant of OTC (P00480)
Q78E (p.Gln78Glu) in OTC (P00480) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes variant effect predictions and structural context.
Q78E (p.Gln78Glu) variant details
- p.Gln78Glu
- TOPMed rs72554330
- Pathogenic
- Missense
- MetaLR 0.83
- MetaSVM 0.53
- SIFT 0.43
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available