D130E (p.Asp130Glu) variant of PKD1 (Polycystin-1)
D130E (p.Asp130Glu) in PKD1 (Polycystin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
D130E (p.Asp130Glu) variant details
- p.Asp130Glu
- TOPMed rs1300136928
- gnomAD rs1300136928
- Missense
- Variant Prioritization Score for Impact Estimate 0.51
- REVEL 0.52
- MetaLR 0.72
- MetaSVM 0.59
- CADD 20.60
- PolyPhen-2 0.00
- SIFT 0.00
- Population evidence available
- Structural context available