R1529S (p.Arg1529Ser) variant of LRP5 (O75197)
R1529S (p.Arg1529Ser) in LRP5 (O75197) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Polycystic liver disease 4 with or without kidney cysts. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
R1529S (p.Arg1529Ser) variant details
- p.Arg1529Ser
- rs724159826
- ClinGen CA210909
- ClinVar RCV000149787
- ClinVar RCV000584817
- Pathogenic
- Polycystic liver disease 4 with or without kidney cysts
- Missense
- Variant Prioritization Score for Impact Estimate 0.694
- REVEL 0.85
- MetaLR 0.77
- MetaSVM 0.44
- CADD 25.50
- PolyPhen-2 0.33
- SIFT 0.02
- ClinVar: Pathogenic (Polycystic liver disease 4 with or without kidney cysts)
- EBI: Pathogenic (in PCLD4)
- UniProt: Pathogenic (in PCLD4)
- Population evidence available
- Structural context available
- Cited in: Whole-exome sequencing reveals LRP5 mutations and canonical Wnt signaling associated with hepatic cystogenesis. (PMID 24706814)
- Cited in: Isolated polycystic liver disease genes define effectors of polycystin-1 function. (PMID 28375157)