E119K (p.Glu119Lys) variant of PKD1 (Polycystin-1)
E119K (p.Glu119Lys) in PKD1 (Polycystin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Polycystic kidney disease, adult type; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
E119K (p.Glu119Lys) variant details
- p.Glu119Lys
- TOPMed rs1248093078
- Uncertain significance
- Polycystic kidney disease, adult type; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.04
- MetaLR 0.15
- MetaSVM -0.71
- CADD 24.80
- PolyPhen-2 0.00
- SIFT 0.09
- ClinVar: Uncertain significance (Polycystic kidney disease, adult type; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.8e-05)
- Structural context available