L9M (p.Leu9Met) variant of PKD1 (Polycystin-1)
L9M (p.Leu9Met) in PKD1 (Polycystin-1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Polycystic kidney disease, adult type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
L9M (p.Leu9Met) variant details
- p.Leu9Met
- TOPMed rs926592294
- gnomAD rs926592294
- Uncertain significance
- Polycystic kidney disease, adult type
- Missense
- Variant Prioritization Score for Impact Estimate 0.198
- REVEL 0.04
- MetaLR 0.05
- MetaSVM -1.06
- CADD 18.20
- PolyPhen-2 0.23
- SIFT 0.00
- ClinVar: Uncertain significance (Polycystic kidney disease, adult type)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available