P126L (p.Pro126Leu) variant of PKD1 (Polycystin-1)
P126L (p.Pro126Leu) in PKD1 (Polycystin-1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
P126L (p.Pro126Leu) variant details
- p.Pro126Leu
- rs1567219166
- ClinGen CA394395695
- ClinVar RCV000785951
- TOPMed rs1567219166
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.753
- REVEL 0.74
- MetaLR 0.79
- MetaSVM 0.76
- CADD 24.70
- PolyPhen-2 0.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Autosomal Recessive Polycystic Kidney Disease – PKHD1. (PMID 20301501)
- Cited in: Consensus expert recommendations for the diagnosis and management of autosomal recessive polycystic kidney disease… (PMID 25015577)