G13E (p.Gly13Glu) variant of PKD2 (Polycystin-2)
G13E (p.Gly13Glu) in PKD2 (Polycystin-2) is a missense change. Clinical records from ClinVar 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 0.22 / 1. The record also includes population frequency data and structural context.
G13E (p.Gly13Glu) variant details
- p.Gly13Glu
- TOPMed rs1415908750
- gnomAD rs1415908750
- Uncertain significance
- Autosomal dominant polycystic kidney disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.09
- CADD 23.10
- PolyPhen-2 0.14
- SIFT 0.01
- ClinVar: Uncertain significance (Autosomal dominant polycystic kidney disease)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available