K16E (p.Lys16Glu) variant of PKD2 (Polycystin-2)
K16E (p.Lys16Glu) in PKD2 (Polycystin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Autosomal dominant polycystic kidney disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
K16E (p.Lys16Glu) variant details
- p.Lys16Glu
- rs1241520333
- ClinGen CA357624920
- ClinVar RCV003814971
- ClinVar RCV004753723
- Uncertain significance
- Autosomal dominant polycystic kidney disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.0765
- REVEL 0.07
- CADD 2.60
- PolyPhen-2 0.00
- SIFT 0.40
- ClinVar: Uncertain significance (Autosomal dominant polycystic kidney disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- 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)