P43L (p.Pro43Leu) variant of PKD1 (Polycystin-1)
P43L (p.Pro43Leu) in PKD1 (Polycystin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
P43L (p.Pro43Leu) variant details
- p.Pro43Leu
- TOPMed rs2092940762
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.07
- MetaLR 0.09
- MetaSVM -0.97
- CADD 23.80
- PolyPhen-2 0.82
- SIFT 0.09
- Population evidence available
- Structural context available