K688E (p.Lys688Glu) variant of PKD2 (Polycystin-2)
K688E (p.Lys688Glu) in PKD2 (Polycystin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Autosomal dominant polycystic kidney disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes published literature and structural context.
K688E (p.Lys688Glu) variant details
- p.Lys688Glu
- rs2110134005
- ClinGen CA357623671
- ClinVar RCV001845018
- Ensembl rs2110134005
- Likely pathogenic
- Autosomal dominant polycystic kidney disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- AlphaMissense 0.98
- MetaLR 0.28
- MetaSVM -0.46
- PolyPhen-2 0.97
- SIFT 0.00
- EVE 0.90
- ClinVar: Likely pathogenic (Autosomal dominant polycystic kidney disease)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Polycystic Kidney Disease, Autosomal Dominant. (PMID 20301424)
- Cited in: Spanish guidelines for the management of autosomal dominant polycystic kidney disease. (PMID 25165191)