S3329F (p.Ser3329Phe) variant of PKD1 (Polycystin-1)
S3329F (p.Ser3329Phe) in PKD1 (Polycystin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Polycystic kidney disease, adult type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
S3329F (p.Ser3329Phe) variant details
- p.Ser3329Phe
- rs1203304646
- ClinGen CA394352214
- ClinVar RCV001730083
- TOPMed rs1203304646
- Likely pathogenic
- Polycystic kidney disease, adult type
- Missense
- Variant Prioritization Score for Impact Estimate 0.518
- REVEL 0.45
- MetaLR 0.32
- MetaSVM -0.24
- CADD 27.90
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Likely pathogenic (Polycystic kidney disease, adult type)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: Polycystic Kidney Disease, Autosomal Dominant. (PMID 20301424)