W1328C (p.Trp1328Cys) variant of PKD1 (Polycystin-1)
W1328C (p.Trp1328Cys) 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 0.83 / 1. The record also includes published literature and structural context.
W1328C (p.Trp1328Cys) variant details
- p.Trp1328Cys
- rs2151799171
- ClinGen CA394381825
- ClinVar RCV001644995
- Ensembl rs2151799171
- Likely pathogenic
- Polycystic kidney disease, adult type
- Missense
- Variant Prioritization Score for Impact Estimate 0.834
- AlphaMissense 0.97
- MetaLR 0.81
- MetaSVM 0.75
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.77
- ClinVar: Likely pathogenic (Polycystic kidney disease, adult type)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Polycystic Kidney Disease, Autosomal Dominant. (PMID 20301424)