D73G (p.Asp73Gly) variant of PKD1 (Polycystin-1)
D73G (p.Asp73Gly) in PKD1 (Polycystin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Polycystic kidney disease, adult type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
D73G (p.Asp73Gly) variant details
- p.Asp73Gly
- rs2151826654
- ClinGen CA394396333
- ClinVar RCV001795812
- ClinVar RCV006269478
- Uncertain significance
- not specified; Polycystic kidney disease, adult type
- Missense
- Variant Prioritization Score for Impact Estimate 0.645
- REVEL 0.63
- MetaLR 0.82
- MetaSVM 0.65
- CADD 22.80
- PolyPhen-2 0.26
- SIFT 0.01
- ClinVar: Uncertain significance (not specified; Polycystic kidney disease, adult type)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Polycystic Kidney Disease, Autosomal Dominant. (PMID 20301424)