G1719R (p.Gly1719Arg) variant of PKD1 (Polycystin-1)
G1719R (p.Gly1719Arg) 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 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
G1719R (p.Gly1719Arg) variant details
- p.Gly1719Arg
- rs2544814581
- ClinGen CA394378067
- ClinVar RCV002293272
- Pathogenic
- Polycystic kidney disease, adult type
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- REVEL 0.38
- CADD 17.60
- PolyPhen-2 0.39
- SIFT 0.06
- ClinVar: Pathogenic (Polycystic kidney disease, adult type)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Cited in: Polycystic Kidney Disease, Autosomal Dominant. (PMID 20301424)