D3187Y (p.Asp3187Tyr) variant of PKD1 (Polycystin-1)
D3187Y (p.Asp3187Tyr) 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 0.65 / 1. The record also includes published literature and structural context.
D3187Y (p.Asp3187Tyr) variant details
- p.Asp3187Tyr
- rs754938191
- ClinGen CA394355816
- ClinVar RCV002470474
- Likely pathogenic
- Polycystic kidney disease, adult type
- Missense
- Variant Prioritization Score for Impact Estimate 0.645
- AlphaMissense 0.76
- MetaLR 0.57
- MetaSVM 0.17
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.72
- 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)