P18R (p.Pro18Arg) variant of PKD2 (Polycystin-2)
P18R (p.Pro18Arg) 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.
P18R (p.Pro18Arg) variant details
- p.Pro18Arg
- gnomAD 4-88007784-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.241
- CADD 13.70
- Population evidence available
- Structural context available
- Literature evidence available