L133V (p.Leu133Val) variant of PKD1 (Polycystin-1)
L133V (p.Leu133Val) in PKD1 (Polycystin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
L133V (p.Leu133Val) variant details
- p.Leu133Val
- TOPMed rs1414167872
- gnomAD rs1414167872
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.48
- MetaLR 0.79
- MetaSVM 0.76
- CADD 16.70
- PolyPhen-2 0.00
- SIFT 0.00
- Population evidence available
- Structural context available