M1I (p.Met1Ile) variant of PKD1 (Polycystin-1)
M1I (p.Met1Ile) in PKD1 (Polycystin-1) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs1567233098
- ClinGen CA394283358
- ClinVar RCV000712618
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available