E1811K (p.Glu1811Lys) variant of PKD1 (Polycystin-1)
E1811K (p.Glu1811Lys) in PKD1 (Polycystin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Polycystic kidney disease, adult type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
E1811K (p.Glu1811Lys) variant details
- p.Glu1811Lys
- rs778028644
- ClinGen CA7831988
- ClinVar RCV003912192
- ClinVar RCV006454821
- Pathogenic
- Polycystic kidney disease, adult type
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.28
- CADD 22.20
- PolyPhen-2 0.50
- SIFT 0.05
- ClinVar: Pathogenic (Polycystic kidney disease, adult type)
- EBI: Pathogenic (in PKD1)
- UniProt: Pathogenic (in PKD1)
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: A complete mutation screen of the ADPKD genes by DHPLC. (PMID 11967008)
- Cited in: Association of mutation position in polycystic kidney disease 1 (PKD1) gene and development of a vascular phenotype. (PMID 12842373)