L29M (p.Leu29Met) variant of PKD2 (Polycystin-2)
L29M (p.Leu29Met) in PKD2 (Polycystin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
L29M (p.Leu29Met) variant details
- p.Leu29Met
- gnomAD 4-88007818-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.203
- REVEL 0.08
- MetaLR 0.12
- MetaSVM -1.05
- CADD 15.60
- PolyPhen-2 0.14
- SIFT 0.14
- Population evidence available
- Structural context available
- Literature evidence available