D68E (p.Asp68Glu) variant of PKD1 (Polycystin-1)
D68E (p.Asp68Glu) in PKD1 (Polycystin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
D68E (p.Asp68Glu) variant details
- p.Asp68Glu
- TOPMed rs2092939906
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- REVEL 0.20
- MetaLR 0.47
- MetaSVM -0.73
- CADD 8.12
- PolyPhen-2 0.00
- SIFT 0.15
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available