Q3016R (p.Gln3016Arg) variant of PKD1 (Polycystin-1)
Q3016R (p.Gln3016Arg) in PKD1 (Polycystin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Polycystic kidney disease, adult type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes published literature and structural context.
Q3016R (p.Gln3016Arg) variant details
- p.Gln3016Arg
- rs2151750082
- ClinGen CA394360748
- ClinVar RCV001589369
- ClinVar RCV002495935
- Likely pathogenic
- not provided; Polycystic kidney disease, adult type
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- AlphaMissense 0.34
- MetaLR 0.33
- MetaSVM -0.47
- PolyPhen-2 1.00
- SIFT 0.10
- EVE 0.71
- ClinVar: Likely pathogenic (not provided; Polycystic kidney disease, adult type)
- EBI: Pathogenic (in PKD1)
- UniProt: Pathogenic (in PKD1)
- Structural context available
- Cited in: Cleavage of polycystin-1 requires the receptor for egg jelly domain and is disrupted by human autosomal-dominant… (PMID 12482949)
- Cited in: Identification of mutations in the duplicated region of the polycystic kidney disease 1 gene (PKD1) by a novel approach. (PMID 9199561)