A23E (p.Ala23Glu) variant of PKD2 (Polycystin-2)
A23E (p.Ala23Glu) in PKD2 (Polycystin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
A23E (p.Ala23Glu) variant details
- p.Ala23Glu
- gnomAD 4-88007801-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- REVEL 0.07
- CADD 12.60
- PolyPhen-2 0.00
- SIFT 0.60
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available
- Literature evidence available