K3181N (p.Lys3181Asn) variant of PKD1 (Polycystin-1)
K3181N (p.Lys3181Asn) 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 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
K3181N (p.Lys3181Asn) variant details
- p.Lys3181Asn
- rs2092047055
- ClinGen CA394355932
- ClinVar RCV001844983
- ClinVar RCV005005988
- Likely pathogenic
- Polycystic kidney disease, adult type
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- REVEL 0.37
- MetaLR 0.44
- MetaSVM -0.31
- CADD 22.20
- PolyPhen-2 1.00
- 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)
- Cited in: Spanish guidelines for the management of autosomal dominant polycystic kidney disease. (PMID 25165191)