N3188D (p.Asn3188Asp) variant of PKD1 (Polycystin-1)
N3188D (p.Asn3188Asp) in PKD1 (Polycystin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Polycystic kidney disease, adult type; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
N3188D (p.Asn3188Asp) variant details
- p.Asn3188Asp
- rs1384099162
- ClinGen CA394355790
- ClinVar RCV001285654
- ClinVar RCV001871677
- Pathogenic/Likely pathogenic
- Polycystic kidney disease, adult type; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.707
- REVEL 0.79
- MetaLR 0.59
- MetaSVM 0.30
- CADD 28.60
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Polycystic kidney disease, adult type; not provided)
- EBI: Likely pathogenic (in PKD1)
- UniProt: Likely pathogenic (in PKD1)
- Population evidence available
- Structural context available
- Cited in: Polycystic Kidney Disease, Autosomal Dominant. (PMID 20301424)