G109E (p.Gly109Glu) variant of PKD1 (Polycystin-1)
G109E (p.Gly109Glu) in PKD1 (Polycystin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
G109E (p.Gly109Glu) variant details
- p.Gly109Glu
- ExAC rs778158409
- TOPMed rs778158409
- gnomAD rs778158409
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.20
- MetaLR 0.16
- MetaSVM -0.69
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.04
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.4e-05)
- Structural context available