G515R (p.Gly515Arg) variant of PKD1 (Polycystin-1)
G515R (p.Gly515Arg) 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 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
G515R (p.Gly515Arg) variant details
- p.Gly515Arg
- rs1555458704
- ClinGen CA394391793
- ClinVar RCV000516631
- ClinVar RCV001286978
- Likely pathogenic
- Polycystic kidney disease, adult type
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.37
- MetaLR 0.20
- MetaSVM -0.69
- CADD 23.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Polycystic kidney disease, adult type)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Cited in: Polycystic Kidney Disease, Autosomal Dominant. (PMID 20301424)