S99I (p.Ser99Ile) variant of PKD1 (Polycystin-1)
S99I (p.Ser99Ile) in PKD1 (Polycystin-1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in PKD1. The record also includes published literature and structural context.
S99I (p.Ser99Ile) variant details
- p.Ser99Ile
- rs1567219544
- ClinGen CA394396049
- ClinVar RCV000788849
- ClinVar RCV003413585
- Uncertain significance
- in PKD1
- Missense
- EBI: Variant of uncertain significance (in PKD1)
- UniProt: Uncertain significance (in PKD1)
- Structural context available
- Cited in: Novel method for genomic analysis of PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease. (PMID 18837007)
- Cited in: The polycystin complex mediates Wnt/Ca(2+) signalling. (PMID 27214281)