E108Q (p.Glu108Gln) variant of PKD1 (Polycystin-1)
E108Q (p.Glu108Gln) in PKD1 (Polycystin-1) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes variant effect predictions and structural context.
E108Q (p.Glu108Gln) variant details
- p.Glu108Gln
- TOPMed rs1416011785
- Pathogenic
- Missense
- MetaLR 0.17
- MetaSVM -0.78
- SIFT 0.77
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available