R17A (p.Arg17Ala) variant of PKD2 (Polycystin-2)
R17A (p.Arg17Ala) in PKD2 (Polycystin-2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
R17A (p.Arg17Ala) variant details
- p.Arg17Ala
- gnomAD 4-88007780-AGC-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.239
- CADD 22.30
- Population evidence available
- Structural context available
- Literature evidence available