V2234E (p.Val2234Glu) variant of PKD1 (Polycystin-1)
V2234E (p.Val2234Glu) 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 0.73 / 1. The record also includes published literature and structural context.
V2234E (p.Val2234Glu) variant details
- p.Val2234Glu
- rs2092417183
- ClinGen CA394373055
- ClinVar RCV001281266
- Ensembl rs2092417183
- Likely pathogenic
- Polycystic kidney disease, adult type
- Missense
- Variant Prioritization Score for Impact Estimate 0.727
- AlphaMissense 0.92
- MetaLR 0.67
- MetaSVM 0.48
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.71
- 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)