P26R (p.Pro26Arg) variant of PKD2 (Polycystin-2)
P26R (p.Pro26Arg) in PKD2 (Polycystin-2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
P26R (p.Pro26Arg) variant details
- p.Pro26Arg
- gnomAD 4-88007807-AC-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.309
- CADD 14.30
- Population evidence available
- Structural context available
- Literature evidence available