R22A (p.Arg22Ala) variant of PKD2 (Polycystin-2)
R22A (p.Arg22Ala) in PKD2 (Polycystin-2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
R22A (p.Arg22Ala) variant details
- p.Arg22Ala
- rs1211371246
- gnomAD 4-88007793-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.23
- CADD 21.10
- Population evidence available
- Structural context available
- Literature evidence available