P24G (p.Pro24Gly) variant of PKD2 (Polycystin-2)
P24G (p.Pro24Gly) in PKD2 (Polycystin-2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
P24G (p.Pro24Gly) variant details
- p.Pro24Gly
- gnomAD 4-88007802-GCC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.537
- CADD 20.30
- Population evidence available
- Structural context available
- Literature evidence available