D25E (p.Asp25Glu) variant of PKD2 (Polycystin-2)
D25E (p.Asp25Glu) in PKD2 (Polycystin-2) 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.
D25E (p.Asp25Glu) variant details
- p.Asp25Glu
- gnomAD rs1326771400
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.07
- CADD 5.57
- PolyPhen-2 0.00
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available