S75Y (p.Ser75Tyr) variant of PKD1 (Polycystin-1)
S75Y (p.Ser75Tyr) in PKD1 (Polycystin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Polycystic kidney disease, adult type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
S75Y (p.Ser75Tyr) variant details
- p.Ser75Tyr
- rs2544886187
- ClinVar RCV004595038
- Uncertain significance
- Polycystic kidney disease, adult type
- Missense
- Variant Prioritization Score for Impact Estimate 0.724
- REVEL 0.68
- MetaLR 0.86
- MetaSVM 0.84
- CADD 22.60
- PolyPhen-2 0.01
- SIFT 0.00
- ClinVar: Uncertain significance (Polycystic kidney disease, adult type)
- EBI: Variant of uncertain significance (in PKD1)
- UniProt: Uncertain significance (in PKD1)
- Population evidence available
- Structural context available
- Cited in: Polycystic Kidney Disease, Autosomal Dominant. (PMID 20301424)