C214S (p.Cys214Ser) variant of PKD1 (Polycystin-1)
C214S (p.Cys214Ser) in PKD1 (Polycystin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The record also includes structural context.
C214S (p.Cys214Ser) variant details
- p.Cys214Ser
- rs1596590574
- ClinGen CA394394741
- ClinVar RCV003236464
- Uncertain significance
- not specified
- Missense
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available