A20E (p.Ala20Glu) variant of PKD2 (Polycystin-2)
A20E (p.Ala20Glu) in PKD2 (Polycystin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
A20E (p.Ala20Glu) variant details
- p.Ala20Glu
- gnomAD 4-88007792-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.217
- REVEL 0.02
- CADD 16.10
- PolyPhen-2 0.06
- SIFT 0.11
- Population evidence available
- Structural context available
- Literature evidence available