G2391D (p.Gly2391Asp) variant of PKD1 (Polycystin-1)
G2391D (p.Gly2391Asp) 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 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
G2391D (p.Gly2391Asp) variant details
- p.Gly2391Asp
- UniProt VAR 064385
- Pathogenic
- Polycystic kidney disease, adult type
- Missense
- Variant Prioritization Score for Impact Estimate 0.799
- REVEL 0.81
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Polycystic kidney disease, adult type)
- EBI: Pathogenic (in PKD1)
- UniProt: Pathogenic (in PKD1)
- Population evidence available
- Structural context available
- Cited in: Novel PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease (ADPKD). (PMID 21115670)
- Cited in: Mutational analysis within the 3' region of the PKD1 gene. (PMID 10200984)