N2128K (p.Asn2128Lys) variant of PKD1 (Polycystin-1)
N2128K (p.Asn2128Lys) 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 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
N2128K (p.Asn2128Lys) variant details
- p.Asn2128Lys
- rs1247882278
- ClinGen CA394373664
- ClinVar RCV002221399
- ClinVar RCV004774632
- Likely pathogenic
- Polycystic kidney disease, adult type
- Missense
- Variant Prioritization Score for Impact Estimate 0.688
- REVEL 0.90
- CADD 24.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Polycystic kidney disease, adult type)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Polycystic Kidney Disease, Autosomal Dominant. (PMID 20301424)