D3204G (p.Asp3204Gly) variant of PKD1 (Polycystin-1)
D3204G (p.Asp3204Gly) in PKD1 (Polycystin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Autosomal dominant polycystic kidney disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes published literature and structural context.
D3204G (p.Asp3204Gly) variant details
- p.Asp3204Gly
- rs1596513913
- ClinGen CA394355381
- ClinVar RCV001844998
- Ensembl rs1596513913
- Likely pathogenic
- Autosomal dominant polycystic kidney disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.567
- AlphaMissense 0.91
- MetaLR 0.51
- MetaSVM 0.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.55
- ClinVar: Likely pathogenic (Autosomal dominant polycystic kidney disease)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)