A20R (p.Ala20Arg) variant of PKD2 (Polycystin-2)
A20R (p.Ala20Arg) in PKD2 (Polycystin-2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
A20R (p.Ala20Arg) variant details
- p.Ala20Arg
- rs1560591780
- gnomAD 4-88007786-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.672
- CADD 20.70
- Most common in the Non-Finnish European population (allele frequency 5.7e-06)
- Structural context available
- Literature evidence available