R17G (p.Arg17Gly) variant of PKD2 (Polycystin-2)
R17G (p.Arg17Gly) in PKD2 (Polycystin-2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
R17G (p.Arg17Gly) variant details
- p.Arg17Gly
- gnomAD 4-88007769-C-CGGG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.265
- CADD 26.00
- Population evidence available
- Structural context available
- Literature evidence available