L29L (p.Leu29Leu) variant of PKD2 (Polycystin-2)
L29L (p.Leu29Leu) in PKD2 (Polycystin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
L29L (p.Leu29Leu) variant details
- p.Leu29Leu
- gnomAD 4-88007818-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.326
- CADD 10.20
- Population evidence available
- Structural context available
- Literature evidence available